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1. BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

Author

Peron, Angela, D’Arco, Felice, Aldinger, Kimberly A., Smith-Hicks, Constance, Zweier, Christiane, Gradek, Gyri A., Bradbury, Kimberley, Accogli, Andrea, Andersen, Erica F., Au, Ping Yee Billie, Battini, Roberta, Beleford, Daniah, Bird, Lynne M., Bouman, Arjan, Bruel, Ange-Line, Busk, Øyvind Løvold, Campeau, Philippe M., Capra, Valeria, Carlston, Colleen, Carmichael, Jenny, Chassevent, Anna, Clayton-Smith, Jill, Bamshad, Michael J., Earl, Dawn L., Faivre, Laurence, Philippe, Christophe, Ferreira, Patrick, Graul-Neumann, Luitgard, Green, Mary J., Haffner, Darrah, Haldipur, Parthiv, Hanna, Suhair, Houge, Gunnar, Jones, Wendy D., Kraus, Cornelia, Kristiansen, Birgit Elisabeth, Lespinasse, James, Low, Karen J., Lynch, Sally Ann, Maia, Sofia, Mao, Rong, Kalinauskiene, Ruta, Melver, Catherine, McDonald, Kimberly, Montgomery, Tara, Morleo, Manuela, Motter, Constance, Openshaw, Amanda S., Palumbos, Janice Cox, Parikh, Aditi Shah, Perilla-Young, Yezmin, Powell, Cynthia M., Person, Richard, Desai, Megha, Piard, Juliette, Pfundt, Rolph, Scala, Marcello, Serey-Gaut, Margaux, Shears, Deborah, Slavotinek, Anne, Suri, Mohnish, Turner, Claire, Tvrdik, Tatiana, Weiss, Karin, Wentzensen, Ingrid M., Zollino, Marcella, Hsieh, Tzung-Chien, de Vries, Bert B. A., Guillemot, Francois, Dobyns, William B., Viskochil, David, and Dias, Cristina

Published
2024
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2. Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.

Author

Guo, Long, Salian, Smrithi, Xue, Jing-Yi, Rath, Nicola, Rousseau, Justine, Kim, Hyunyun, Ehresmann, Sophie, Moosa, Shahida, Nakagawa, Norio, Kuroda, Hiroshi, Clayton-Smith, Jill, Wang, Juan, Wang, Zheng, Banka, Siddharth, Jackson, Adam, Zhang, Yan-Min, Wei, Zhen-Jie, Hüning, Irina, Brunet, Theresa, Ohashi, Hirofumi, Thomas, Molly, Bupp, Caleb, Miyake, Noriko, Matsumoto, Naomichi, Mendoza-Londono, Roberto, Costain, Gregory, Hahn, Gabriele, Di Donato, Nataliya, Yigit, Gökhan, Yamada, Takahiro, Nishimura, Gen, Ansel, Karl, Wollnik, Bernd, Hrabě de Angelis, Martin, Mégarbané, André, Rosenfeld, Jill, Heissmeyer, Vigo, Ikegawa, Shiro, and Campeau, Philippe

Subjects
ERI1, exoribonuclease, ribosomopathy, short stature, skeletal dysplasia, spondyloepimetaphyseal dysplasia, Humans, Exoribonucleases, Histones, Mutation, Missense, RNA, Ribosomal, 5.8S, RNA, RNA, Messenger
Abstract

ERI1 is a 3-to-5 exoribonuclease involved in RNA metabolic pathways including 5.8S rRNA processing and turnover of histone mRNAs. Its biological and medical significance remain unclear. Here, we uncover a phenotypic dichotomy associated with bi-allelic ERI1 variants by reporting eight affected individuals from seven unrelated families. A severe spondyloepimetaphyseal dysplasia (SEMD) was identified in five affected individuals with missense variants but not in those with bi-allelic null variants, who showed mild intellectual disability and digital anomalies. The ERI1 missense variants cause a loss of the exoribonuclease activity, leading to defective trimming of the 5.8S rRNA 3 end and a decreased degradation of replication-dependent histone mRNAs. Affected-individual-derived induced pluripotent stem cells (iPSCs) showed impaired in vitro chondrogenesis with downregulation of genes regulating skeletal patterning. Our study establishes an entity previously unreported in OMIM and provides a model showing a more severe effect of missense alleles than null alleles within recessive genotypes, suggesting a key role of ERI1-mediated RNA metabolism in human skeletal patterning and chondrogenesis.

Published
2023

3. Reimagining Hospitality and Sense of Belonging for Underrepresented Students in Graduate Teacher Education

Author

Heiney-Smith, Jill

Abstract

This article presents findings from a sequential mixed methods study that examines how graduate teacher education students describe the experiences that either enhance or interrupt a sense of belonging before and during the university preparation program. The paper focuses primarily on analysis from two focus groups and demonstrates particular complexity for underrepresented students as they navigate university-based graduate coursework and clinical internship in K-12 schools simultaneously. Theoretical frameworks and research on hospitality and belonging are applied to interpret the results and reimagine the concept of hospitality on a program-wide level. Participant voices from each point of data collection are elevated in the findings and are presented in depth. Findings suggest that underrepresented students need various intentional and structured scaffolds to survive sometimes inhospitable school environments. These scaffolds must begin with the admissions process and be informed by deep partnerships with external community-based organizations who often hold discrete and relevant cultural knowledge.

Published
2022

4. Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return

Author

Huth, Emily A., Zhao, Xiaonan, Owen, Nichole, Luna, Pamela N., Vogel, Ida, Dorf, Inger L. H., Joss, Shelagh, Clayton-Smith, Jill, Parker, Michael J., Louw, Jacoba J., Gewillig, Marc, Breckpot, Jeroen, Kraus, Alison, Sasaki, Erina, Kini, Usha, Burgess, Trent, Tan, Tiong Y., Armstrong, Ruth, Neas, Katherine, Ferrero, Giovanni B., Brusco, Alfredo, Kerstjens-Frederikse, Wihelmina S., Rankin, Julia, Helvaty, Lindsey R., Landis, Benjamin J., Geddes, Gabrielle C., McBride, Kim L., Ware, Stephanie M., Shaw, Chad A., Lalani, Seema R., Rosenfeld, Jill A., and Scott, Daryl A.

Published
2023
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5. TGFβ Drives Metabolic Perturbations during Epithelial Mesenchymal Transition in Pancreatic Cancer: TGFβ Induced EMT in PDAC

Author

Rajagopal, Meena U, Bansal, Shivani, Kaur, Prabhjit, Jain, Shreyans K, Altadil, Tatiana, Hinzman, Charles P, Li, Yaoxiang, Moulton, Joanna, Singh, Baldev, Bansal, Sunil, Chauthe, Siddheshwar Kisan, Singh, Rajbir, Banerjee, Partha P, Mapstone, Mark, Fiandaca, Massimo S, Federoff, Howard J, Unger, Keith, Smith, Jill P, and Cheema, Amrita K

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Digestive Diseases, Cancer, Rare Diseases, Pancreatic Cancer, Aetiology, 2.1 Biological and endogenous factors, tumor microenvironment, pancreatic cancer, TGF beta, 9-cis retinoic acidPANC-1 cells, epithelial mesenchymal transition, Oncology and carcinogenesis
Abstract

Pancreatic ductal adenocarcinoma (PDAC) is a highly lethal malignancy wherein a majority of patients present metastatic disease at diagnosis. Although the role of epithelial to mesenchymal transition (EMT), mediated by transforming growth factor beta (TGFβ), in imparting an aggressive phenotype to PDAC is well documented, the underlying biochemical pathway perturbations driving this behaviour have not been elucidated. We used high-resolution mass spectrometry (HRMS) based molecular phenotyping approach in order to delineate metabolic changes concomitant to TGFβ-induced EMT in pancreatic cancer cells. Strikingly, we observed robust changes in amino acid and energy metabolism that may contribute to tumor invasion and metastasis. Somewhat unexpectedly, TGFβ treatment resulted in an increase in intracellular levels of retinoic acid (RA) that in turn resulted in increased levels of extracellular matrix (ECM) proteins including fibronectin (FN) and collagen (COL1). These findings were further validated in plasma samples obtained from patients with resectable pancreatic cancer. Taken together, these observations provide novel insights into small molecule dysregulation that triggers a molecular cascade resulting in increased EMT-like changes in pancreatic cancer cells, a paradigm that can be potentially targeted for better clinical outcomes.

Published
2021

6. Personal and Reflective Epistemology in Pre-Service Teacher Education

Author

Heiney-Smith, Jill

Abstract

Teacher preparation programs aim to provide pedagogical skills for knowledge development and critical thinking. Yet teacher candidates themselves have views and understandings of the very nature of knowledge, or epistemology, which might inhibit or advance their development as teachers. This paper begins with an overview of Kitchener's (1983) model for cognitive processing and later work in epistemological development, The Reflective Judgment Model (1994, 2004). Next, a presentation of research in teacher candidate epistemology in Poland is compared with a study of teacher candidate perceptions in Singapore, both grounded by Kitchener's model of knowledge development. Finally, a comprehensive research review by Sleeter (2000) reveals the limitations of such studies in the application to historically under-served students and teachers of color in the United States.

Published
2018

7. Recommendations for whole genome sequencing in diagnostics for rare diseases

Author

Souche, Erika, Beltran, Sergi, Brosens, Erwin, Belmont, John W., Fossum, Magdalena, Riess, Olaf, Gilissen, Christian, Ardeshirdavani, Amin, Houge, Gunnar, van Gijn, Marielle, Clayton-Smith, Jill, Synofzik, Matthis, de Leeuw, Nicole, Deans, Zandra C., Dincer, Yasemin, Eck, Sebastian H., van der Crabben, Saskia, Balasubramanian, Meena, Graessner, Holm, Sturm, Marc, Firth, Helen, Ferlini, Alessandra, Nabbout, Rima, De Baere, Elfride, Liehr, Thomas, Macek, Milan, Matthijs, Gert, Scheffer, Hans, Bauer, Peter, Yntema, Helger G., and Weiss, Marjan M.

Published
2022
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10. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Author

O’Donnell-Luria, Anne H, Pais, Lynn S, Faundes, Víctor, Wood, Jordan C, Sveden, Abigail, Luria, Victor, Jamra, Rami Abou, Accogli, Andrea, Amburgey, Kimberly, Anderlid, Britt Marie, Azzarello-Burri, Silvia, Basinger, Alice A, Bianchini, Claudia, Bird, Lynne M, Buchert, Rebecca, Carre, Wilfrid, Ceulemans, Sophia, Charles, Perrine, Cox, Helen, Culliton, Lisa, Currò, Aurora, Study, Deciphering Developmental Disorders, McRae, Jeremy F, Clayton, Stephen, Fitzgerald, Tomas W, Kaplanis, Joanna, Prigmore, Elena, Rajan, Diana, Sifrim, Alejandro, Aitken, Stuart, Akawi, Nadia, Alvi, Mohsan, Ambridge, Kirsty, Barrett, Daniel M, Bayzetinova, Tanya, Jones, Philip, Jones, Wendy D, King, Daniel, Krishnappa, Netravathi, Mason, Laura E, Singh, Tarjinder, Tivey, Adrian R, Ahmed, Munaza, Anjum, Uruj, Archer, Hayley, Armstrong, Ruth, Awada, Jana, Balasubramanian, Meena, Banka, Siddharth, Baralle, Diana, Barnicoat, Angela, Batstone, Paul, Baty, David, Bennett, Chris, Berg, Jonathan, Bernhard, Birgitta, Bevan, A Paul, Bitner-Glindzicz, Maria, Blair, Edward, Blyth, Moira, Bohanna, David, Bourdon, Louise, Bourn, David, Bradley, Lisa, Brady, Angela, Brent, Simon, Brewer, Carole, Brunstrom, Kate, Bunyan, David J, Burn, John, Canham, Natalie, Castle, Bruce, Chandler, Kate, Chatzimichali, Elena, Cilliers, Deirdre, Clarke, Angus, Clasper, Susan, Clayton-Smith, Jill, Clowes, Virginia, Coates, Andrea, Cole, Trevor, Colgiu, Irina, Collins, Amanda, Collinson, Morag N, Connell, Fiona, Cooper, Nicola, Cresswell, Lara, Cross, Gareth, Crow, Yanick, D’Alessandro, Mariella, Dabir, Tabib, Davidson, Rosemarie, Davies, Sally, de Vries, Dylan, Dean, John, Deshpande, Charu, Devlin, Gemma, Dixit, Abhijit, and Dobbie, Angus

Subjects
Biological Sciences, Genetics, Autism, Neurosciences, Brain Disorders, Neurodegenerative, Intellectual and Developmental Disabilities (IDD), Pediatric, Clinical Research, Epilepsy, Mental Health, Aetiology, 2.1 Biological and endogenous factors, Neurological, Adolescent, Adult, Child, Child, Preschool, DNA-Binding Proteins, Female, Genetic Variation, Haploinsufficiency, Heterozygote, Humans, Infant, Male, Neurodevelopmental Disorders, Pedigree, Phenotype, Young Adult, Deciphering Developmental Disorders (DDD) Study, H3K4 methylation, KMT2E, autism, epilepsy, epileptic encephalopathy, global developmental delay, intellectual disability, neurodevelopmental disorder, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker Exchange and three previously reported), and four individuals with chromosome 7q22.2-22.23 microdeletions encompassing KMT2E (one previously reported). Almost all variants occurred de novo, and most were truncating. Most affected individuals with protein-truncating variants presented with mild intellectual disability. One-quarter of individuals met criteria for autism. Additional common features include macrocephaly, hypotonia, functional gastrointestinal abnormalities, and a subtle facial gestalt. Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. More than 70% of the individuals were male, and expressivity was variable by sex; epilepsy was more common in females and autism more common in males. The four individuals with microdeletions encompassing KMT2E generally presented similarly to those with truncating variants, but the degree of developmental delay was greater. The group of four individuals with missense variants in KMT2E presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Microcephaly was also common in this group. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E might explain this divergence in phenotype, but requires independent validation. Disruptive variants in KMT2E are an under-recognized cause of neurodevelopmental abnormalities.

Published
2019

11. The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision

Author

Chrystal, Paul W., Lambacher, Nils J., Doucette, Lance P., Bellingham, James, Schiff, Elena R., Noel, Nicole C. L., Li, Chunmei, Tsiropoulou, Sofia, Casey, Geoffrey A., Zhai, Yi, Nadolski, Nathan J., Majumder, Mohammed H., Tagoe, Julia, D’Esposito, Fabiana, Cordeiro, Maria Francesca, Downes, Susan, Clayton-Smith, Jill, Ellingford, Jamie, Mahroo, Omar A., Hocking, Jennifer C., Cheetham, Michael E., Webster, Andrew R., Jansen, Gert, Blacque, Oliver E., Allison, W. Ted, Au, Ping Yee Billie, MacDonald, Ian M., Arno, Gavin, and Leroux, Michel R.

Published
2022
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12. Empowering Pasifika Students to Express Their Identities through Visual Arts in New Zealand Secondary Schools: The Role of Euro-Descendent Teachers

Author

Smith, Jill

Abstract

The greatest numbers of young people in New Zealand are from Pasifika peoples' ethnic groups. In contrast, art teachers in secondary schools are predominantly European. Research conducted in 2015, which investigated how art teachers are responding to the increasing diversity of students, uncovered important insights. This article provides "snapshots" of how four European-New Zealand art teachers, who work in schools where Pasifika students comprise the largest ethnic group, are empowering them to express themselves within their cultural milieu. Articulated through the voices of the art teachers, the stories of these students are visualized through examples of their art works.

Published
2016

13. Characteristics of an Effective Development Program for Mentors of Preservice Teachers

Author

Denton, David W. and Heiney-Smith, Jill

Abstract

Teacher education programs require effective development for mentors of preservice teachers to increase the likelihood student teaching is reliable and that it produces preferred outcomes. There are few studies, however, that describe development programs for mentors. This study identified characteristics of an effective program for mentors of preservice teachers using an exploratory mixed method design. Findings suggest subject areas for development focus on communication, such as training that promotes reciprocity between mentor and mentee, and relationships, such as emphasising mentor and mentee roles and responsibilities. Findings from this study also provide detail about mentor preferences for the format, timing, frequency, and duration of development activities, such as the use of blended learning systems. Suggestions for future research include replication studies and investigations that test the effects of recommended subject areas.

Published
2020
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14. De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

Author

Reijnders, Margot RF, Miller, Kerry A, Alvi, Mohsan, Goos, Jacqueline AC, Lees, Melissa M, de Burca, Anna, Henderson, Alex, Kraus, Alison, Mikat, Barbara, de Vries, Bert BA, Isidor, Bertrand, Kerr, Bronwyn, Marcelis, Carlo, Schluth-Bolard, Caroline, Deshpande, Charu, Ruivenkamp, Claudia AL, Wieczorek, Dagmar, Study, The Deciphering Developmental Disorders, Baralle, Diana, Blair, Edward M, Engels, Hartmut, Lüdecke, Hermann-Josef, Eason, Jacqueline, Santen, Gijs WE, Clayton-Smith, Jill, Chandler, Kate, Tatton-Brown, Katrina, Payne, Katelyn, Helbig, Katherine, Radtke, Kelly, Nugent, Kimberly M, Cremer, Kirsten, Strom, Tim M, Bird, Lynne M, Sinnema, Margje, Bitner-Glindzicz, Maria, van Dooren, Marieke F, Alders, Marielle, Koopmans, Marije, Brick, Lauren, Kozenko, Mariya, Harline, Megan L, Klaassens, Merel, Steinraths, Michelle, Cooper, Nicola S, Edery, Patrick, Yap, Patrick, Terhal, Paulien A, van der Spek, Peter J, Lakeman, Phillis, Taylor, Rachel L, Littlejohn, Rebecca O, Pfundt, Rolph, Mercimek-Andrews, Saadet, Stegmann, Alexander PA, Kant, Sarina G, McLean, Scott, Joss, Shelagh, Swagemakers, Sigrid MA, Douzgou, Sofia, Wall, Steven A, Küry, Sébastien, Calpena, Eduardo, Koelling, Nils, McGowan, Simon J, Twigg, Stephen RF, Mathijssen, Irene MJ, Nellaker, Christoffer, Brunner, Han G, and Wilkie, Andrew OM

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Biotechnology, Brain Disorders, Human Genome, Neurosciences, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Base Sequence, Cell Line, Child, Child, Preschool, Facies, Female, Genetic Association Studies, Humans, Infant, Inheritance Patterns, Loss of Function Mutation, Male, Neurodevelopmental Disorders, Protein Kinases, RNA, Messenger, Translocation, Genetic, Young Adult, Deciphering Developmental Disorders Study, Tousled-like, facial averaging, haploinsufficiency, intellectual disability, kinase, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

Next-generation sequencing is a powerful tool for the discovery of genes related to neurodevelopmental disorders (NDDs). Here, we report the identification of a distinct syndrome due to de novo or inherited heterozygous mutations in Tousled-like kinase 2 (TLK2) in 38 unrelated individuals and two affected mothers, using whole-exome and whole-genome sequencing technologies, matchmaker databases, and international collaborations. Affected individuals had a consistent phenotype, characterized by mild-borderline neurodevelopmental delay (86%), behavioral disorders (68%), severe gastro-intestinal problems (63%), and facial dysmorphism including blepharophimosis (82%), telecanthus (74%), prominent nasal bridge (68%), broad nasal tip (66%), thin vermilion of the upper lip (62%), and upslanting palpebral fissures (55%). Analysis of cell lines from three affected individuals showed that mutations act through a loss-of-function mechanism in at least two case subjects. Genotype-phenotype analysis and comparison of computationally modeled faces showed that phenotypes of these and other individuals with loss-of-function variants significantly overlapped with phenotypes of individuals with other variant types (missense and C-terminal truncating). This suggests that haploinsufficiency of TLK2 is the most likely underlying disease mechanism, leading to a consistent neurodevelopmental phenotype. This work illustrates the power of international data sharing, by the identification of 40 individuals from 26 different centers in 7 different countries, allowing the identification, clinical delineation, and genotype-phenotype evaluation of a distinct NDD caused by mutations in TLK2.

Published
2018

17. A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome

Author

Twigg, Stephen RF, Hufnagel, Robert B, Miller, Kerry A, Zhou, Yan, McGowan, Simon J, Taylor, John, Craft, Jude, Taylor, Jenny C, Santoro, Stephanie L, Huang, Taosheng, Hopkin, Robert J, Brady, Angela F, Clayton-Smith, Jill, Clericuzio, Carol L, Grange, Dorothy K, Groesser, Leopold, Hafner, Christian, Horn, Denise, Temple, I Karen, Dobyns, William B, Curry, Cynthia J, Jones, Marilyn C, and Wilkie, Andrew OM

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Clinical Sciences, Brain Disorders, Rare Diseases, Brain Cancer, Clinical Research, Neurosciences, Cancer, Pediatric, Genetics, Child, Preschool, Craniofacial Abnormalities, Female, Humans, Infant, Infant, Newborn, Intestines, Male, Mutation, Signal Transduction, Skin Abnormalities, Smoothened Receptor, Syndactyly, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

Curry-Jones syndrome (CJS) is a multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation with myofibromas or hamartomas. Cerebellar medulloblastoma has been described in a single affected individual; in another, biopsy of skin lesions showed features of trichoblastoma. The combination of asymmetric clinical features, patchy skin manifestations, and neoplastic association previously led to the suggestion that this could be a mosaic condition, possibly involving hedgehog (Hh) signaling. Here, we show that CJS is caused by recurrent somatic mosaicism for a nonsynonymous variant in SMO (c.1234C>T [p.Leu412Phe]), encoding smoothened (SMO), a G-protein-coupled receptor that transduces Hh signaling. We identified eight mutation-positive individuals (two of whom had not been reported previously) with highly similar phenotypes and demonstrated varying amounts of the mutant allele in different tissues. We present detailed findings from brain MRI in three mutation-positive individuals. Somatic SMO mutations that result in constitutive activation have been described in several tumors, including medulloblastoma, ameloblastoma, and basal cell carcinoma. Strikingly, the most common of these mutations is the identical nonsynonymous variant encoding p.Leu412Phe. Furthermore, this substitution has been shown to activate SMO in the absence of Hh signaling, providing an explanation for tumor development in CJS. This raises therapeutic possibilities for using recently generated Hh-pathway inhibitors. In summary, our work uncovers the major genetic cause of CJS and illustrates strategies for gene discovery in the context of low-level tissue-specific somatic mosaicism.

Published
2016

18. Biculturalism and Multiculturalism: Competing Tensions in Visual Arts Education in Aotearoa-New Zealand

Author

Smith, Jill

Abstract

New Zealand has become an increasingly multicultural society since the 1990s. But multicultural education is complicated in this nation by its position on biculturalism, a commitment founded in its postcolonial history. The finding of an investigation in secondary schools, which showed that national and visual arts curricula emphasize biculturalism over multiculturalism, was reflected in art teachers' pedagogies. In this paper I discuss how multicultural art education could be strengthened within the existing bicultural framework. Bridging the gap between policies and practices would require art teachers to review their practices and implement strategies which take into account the cultural diversity of students to enhance understandings of their own and other multicultural societies.

Published
2010

22. The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis

Author

Weiss, Karin, Lazar, Hayley P., Kurolap, Alina, Martinez, Ariel F., Paperna, Tamar, Cohen, Lior, Smeland, Marie F., Whalen, Sandra, Heide, Solveig, Keren, Boris, Terhal, Pauline, Irving, Melita, Takaku, Motoki, Roberts, John D., Petrovich, Robert M., Schrier Vergano, Samantha A., Kenney, Amy, Hove, Hanne, DeChene, Elizabeth, Quinonez, Shane C., Colin, Estelle, Ziegler, Alban, Rumple, Melissa, Jain, Mahim, Monteil, Danielle, Roeder, Elizabeth R., Nugent, Kimberly, van Haeringen, Arie, Gambello, Michael, Santani, Avni, Medne, Līvija, Krock, Bryan, Skraban, Cara M., Zackai, Elaine H., Dubbs, Holly A., Smol, Thomas, Ghoumid, Jamal, Parker, Michael J., Wright, Michael, Turnpenny, Peter, Clayton-Smith, Jill, Metcalfe, Kay, Kurumizaka, Hitoshi, Gelb, Bruce D., Baris Feldman, Hagit, Campeau, Philippe M., Muenke, Maximilian, Wade, Paul A., and Lachlan, Katherine

Published
2020
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24. Art Education in New Zealand: Historical Antecedents and the Contemporary Context

Author

Smith, Jill

Abstract

Education is never a passive, autonomous, or static activity. It manipulates, as much as it is manipulated, and reflects specific contexts. Education histories document continuities and changes over time, and are able to throw light on and inform contemporary practice. Prompted by perspectives on curriculum as a social and cultural construction, together with Efland's (2004) identification of the principal visions of nineteenth and twentieth century art education in the United States, the author traces the historical antecedents of art education in New Zealand. The author points out that the development of art education in New Zealand from the 1840s to the 1990s was essentially a selection from the culture--the way of life, the kinds of knowledge, and the attitudes and values of society--of a particular time. The author discusses how the current policies and practices in art education reflect the economic, social, cultural and educational changes, including curriculum reforms, promulgated in New Zealand by successive governments during the 1980s and 90s.

Published
2009

26. Cross-Sector Perspectives: How Teachers Are Responding to the Ethnic and Cultural Diversity of Young People in New Zealand through Visual Arts

Author

Smith, Jill, Pohio, Lesley, and Hoeberigs, Robert

Abstract

In 2015, cross-sector perspectives were sought on how teachers of visual arts in a sample of early childhood centres, primary schools and secondary schools in Auckland were responding to the increasing ethnic and cultural diversity of young people in New Zealand. The research was contextualised within national curricula, demographic statistics and literature on multiple approaches to pedagogy that foreground engagement with culture(s). The findings, presented through the voices of teachers and art works by children and students, provide insightful perspectives about the place of visual arts across these three sectors, and how teachers are responding in differing ways to the diversity of the young people they teach. This research provides a starting point for conversations within, and beyond New Zealand, about the role of visual arts education for equity and inclusion.

Published
2018
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27. Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

Author

Lionel, Anath C, Tammimies, Kristiina, Vaags, Andrea K, Rosenfeld, Jill A, Ahn, Joo Wook, Merico, Daniele, Noor, Abdul, Runke, Cassandra K, Pillalamarri, Vamsee K, Carter, Melissa T, Gazzellone, Matthew J, Thiruvahindrapuram, Bhooma, Fagerberg, Christina, Laulund, Lone W, Pellecchia, Giovanna, Lamoureux, Sylvia, Deshpande, Charu, Clayton-Smith, Jill, White, Ann C, Leather, Susan, Trounce, John, Bedford, H Melanie, Hatchwell, Eli, Eis, Peggy S, Yuen, Ryan KC, Walker, Susan, Uddin, Mohammed, Geraghty, Michael T, Nikkel, Sarah M, Tomiak, Eva M, Fernandez, Bridget A, Soreni, Noam, Crosbie, Jennifer, Arnold, Paul D, Schachar, Russell J, Roberts, Wendy, Paterson, Andrew D, So, Joyce, Szatmari, Peter, Chrysler, Christina, Woodbury-Smith, Marc, Lowry, R Brian, Zwaigenbaum, Lonnie, Mandyam, Divya, Wei, John, MacDonald, Jeffrey R, Howe, Jennifer L, Nalpathamkalam, Thomas, Wang, Zhuozhi, Tolson, Daniel, Cobb, David S, Wilks, Timothy M, Sorensen, Mark J, Bader, Patricia I, An, Yu, Wu, Bai-Lin, Musumeci, Sebastiano Antonino, Romano, Corrado, Postorivo, Diana, Nardone, Anna M, Della Monica, Matteo, Scarano, Gioacchino, Zoccante, Leonardo, Novara, Francesca, Zuffardi, Orsetta, Ciccone, Roberto, Antona, Vincenzo, Carella, Massimo, Zelante, Leopoldo, Cavalli, Pietro, Poggiani, Carlo, Cavallari, Ugo, Argiropoulos, Bob, Chernos, Judy, Brasch-Andersen, Charlotte, Speevak, Marsha, Fichera, Marco, Ogilvie, Caroline Mackie, Shen, Yiping, Hodge, Jennelle C, Talkowski, Michael E, Stavropoulos, Dimitri J, Marshall, Christian R, and Scherer, Stephen W

Subjects
Pediatric Research Initiative, Pediatric, Intellectual and Developmental Disabilities (IDD), Mental Health, Brain Disorders, Human Genome, Neurosciences, Autism, Clinical Research, Behavioral and Social Science, Genetics, 2.1 Biological and endogenous factors, Aetiology, Mental health, Adolescent, Adult, Attention Deficit Disorder with Hyperactivity, Case-Control Studies, Child, Child Development Disorders, Pervasive, Child, Preschool, Chromosomes, Human, Pair 9, DNA Copy Number Variations, Exons, Female, Gene Expression, Genetic Association Studies, Genetic Predisposition to Disease, Glycoproteins, Humans, Infant, Infant, Newborn, Male, Nerve Tissue Proteins, Organ Specificity, Phenotype, Polymorphism, Single Nucleotide, Protein Isoforms, Receptors, Cell Surface, Risk Factors, Sequence Deletion, Transcription Factors, Transcription Initiation Site, Tripartite Motif Proteins, Ubiquitin-Protein Ligases, Young Adult, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Rare copy number variants (CNVs) disrupting ASTN2 or both ASTN2 and TRIM32 have been reported at 9q33.1 by genome-wide studies in a few individuals with neurodevelopmental disorders (NDDs). The vertebrate-specific astrotactins, ASTN2 and its paralog ASTN1, have key roles in glial-guided neuronal migration during brain development. To determine the prevalence of astrotactin mutations and delineate their associated phenotypic spectrum, we screened ASTN2/TRIM32 and ASTN1 (1q25.2) for exonic CNVs in clinical microarray data from 89 985 individuals across 10 sites, including 64 114 NDD subjects. In this clinical dataset, we identified 46 deletions and 12 duplications affecting ASTN2. Deletions of ASTN1 were much rarer. Deletions near the 3' terminus of ASTN2, which would disrupt all transcript isoforms (a subset of these deletions also included TRIM32), were significantly enriched in the NDD subjects (P = 0.002) compared with 44 085 population-based controls. Frequent phenotypes observed in individuals with such deletions include autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), speech delay, anxiety and obsessive compulsive disorder (OCD). The 3'-terminal ASTN2 deletions were significantly enriched compared with controls in males with NDDs, but not in females. Upon quantifying ASTN2 human brain RNA, we observed shorter isoforms expressed from an alternative transcription start site of recent evolutionary origin near the 3' end. Spatiotemporal expression profiling in the human brain revealed consistently high ASTN1 expression while ASTN2 expression peaked in the early embryonic neocortex and postnatal cerebellar cortex. Our findings shed new light on the role of the astrotactins in psychopathology and their interplay in human neurodevelopment.

Published
2014

28. The Role of a Cholecystokinin Receptor Antagonist in the Management of Chronic Pancreatitis: A Phase 1 Trial.

Author

Ciofoaia, Victor, Chen, Wenqiang, Tarek, Bakain W., Gay, Martha, Shivapurkar, Narayan, and Smith, Jill P.

Subjects
CHRONIC pancreatitis, CYSTIC fibrosis, CHOLECYSTOKININ, PANCREATIC cancer, CHRONIC pain
Abstract

Chronic pancreatitis (CP) is a rare but debilitating condition with an 8-fold increased risk of developing pancreatic cancer. In addition to the symptoms that come from the loss of endocrine and exocrine function in CP, the management of chronic pain is problematic. We previously showed that the CCK-receptor antagonist called proglumide could decrease inflammation, acinar-ductal metaplasia, and fibrosis in murine models of CP. We hypothesized that proglumide would be safe and diminish pain caused by CP. A Phase 1 open-labeled safety study was performed in subjects with clinical and radiographic evidence of CP with moderate to severe pain. After a 4-week observation period, the subjects were treated with proglumide in 400 mg capsules three times daily (1200 mg per day) by mouth for 12 weeks, and then subjects returned for a safety visit 4 weeks after the discontinuation of the study medication. The results of three pain surveys (Numeric Rating Scale, COMPAT-SF, and NIH PROMIS) showed that the patients had significantly less pain after 12 weeks of proglumide compared to the pre-treatment observation phase. Of the eight subjects in this study, two experienced nausea and diarrhea with proglumide. These side effects resolved in one subject with doses reduced to 800 mg per day. No abnormalities were noted in the blood chemistries. A blood microRNA blood biomarker panel that corresponded to pancreatic inflammation and fibrosis showed significant improvement. We conclude that proglumide is safe and well tolerated in most subjects with CP at a dose of 1200 mg per day. Furthermore, proglumide therapy may have a beneficial effect by decreasing pain associated with CP. [ABSTRACT FROM AUTHOR]

Published
2024
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33. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Author

van der Sluijs, Pleuntje J., Jansen, Sandra, Vergano, Samantha A., Adachi-Fukuda, Miho, Alanay, Yasemin, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Wödl, Stefanie, Berry, Katherine, Bijlsma, Emilia K., Bok, Levinus A., Brouwer, Alwin F. J., van der Burgt, Ineke, Campeau, Philippe M., Canham, Natalie, Chrzanowska, Krystyna, Chu, Yoyo W. Y., Chung, Brain H. Y., Dahan, Karin, De Rademaeker, Marjan, Destree, Anne, Dudding-Byth, Tracy, Earl, Rachel, Elcioglu, Nursel, Elias, Ellen R., Fagerberg, Christina, Gardham, Alice, Gener, Blanca, Gerkes, Erica H., Grasshoff, Ute, van Haeringen, Arie, Heitink, Karin R., Herkert, Johanna C., den Hollander, Nicolette S., Horn, Denise, Hunt, David, Kant, Sarina G., Kato, Mitsuhiro, Kayserili, Hülya, Kersseboom, Rogier, Kilic, Esra, Krajewska-Walasek, Malgorzata, Lammers, Kylin, Laulund, Lone W., Lederer, Damien, Lees, Melissa, López-González, Vanesa, Maas, Saskia, Mancini, Grazia M. S., Marcelis, Carlo, Martinez, Francisco, Maystadt, Isabelle, McGuire, Marianne, McKee, Shane, Mehta, Sarju, Metcalfe, Kay, Milunsky, Jeff, Mizuno, Seiji, Moeschler, John B., Netzer, Christian, Ockeloen, Charlotte W., Oehl-Jaschkowitz, Barbara, Okamoto, Nobuhiko, Olminkhof, Sharon N. M., Orellana, Carmen, Pasquier, Laurent, Pottinger, Caroline, Riehmer, Vera, Robertson, Stephen P., Roifman, Maian, Rooryck, Caroline, Ropers, Fabienne G., Rosello, Monica, Ruivenkamp, Claudia A. L., Sagiroglu, Mahmut S., Sallevelt, Suzanne C. E. H., Sanchis Calvo, Amparo, Simsek-Kiper, Pelin O., Soares, Gabriela, Solaeche, Lucia, Sonmez, Fatma Mujgan, Splitt, Miranda, Steenbeek, Duco, Stegmann, Alexander P. A., Stumpel, Constance T. R. M., Tanabe, Saori, Uctepe, Eyyup, Utine, G. Eda, Veenstra-Knol, Hermine E., Venkateswaran, Sunita, Vilain, Catheline, Vincent-Delorme, Catherine, Vulto-van Silfhout, Anneke T., Wheeler, Patricia, Wilson, Golder N., Wilson, Louise C., Wollnik, Bernd, Kosho, Tomoki, Wieczorek, Dagmar, Eichler, Evan, Pfundt, Rolph, de Vries, Bert B. A., Clayton-Smith, Jill, and Santen, Gijs W. E.

Published
2019
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34. Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

Author

Verheije, Rosalind, Kupchik, Gabriel S., Isidor, Bertrand, Kroes, Hester Y., Lynch, Sally Ann, Hawkes, Lara, Hempel, Maja, Gelb, Bruce D., Ghoumid, Jamal, D’Amours, Guylaine, Chandler, Kate, Dubourg, Christèle, Loddo, Sara, Tümer, Zeynep, Shaw-Smith, Charles, Nizon, Mathilde, Shevell, Michael, Van Hoof, Evelien, Anyane-Yeboa, Kwame, Cerbone, Gaetana, Clayton-Smith, Jill, Cogné, Benjamin, Corre, Pierre, Corveleyn, Anniek, De Borre, Marie, Hjortshøj, Tina Duelund, Fradin, Mélanie, Gewillig, Marc, Goldmuntz, Elizabeth, Hens, Greet, Lemyre, Emmanuelle, Journel, Hubert, Kini, Usha, Kortüm, Fanny, Le Caignec, Cedric, Novelli, Antonio, Odent, Sylvie, Petit, Florence, Revah-Politi, Anya, Stong, Nicholas, Strom, Tim M., van Binsbergen, Ellen, DDD study, Devriendt, Koenraad, and Breckpot, Jeroen

Published
2019
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35. Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis

Author

Whitcomb, David C, LaRusch, Jessica, Krasinskas, Alyssa M, Klei, Lambertus, Smith, Jill P, Brand, Randall E, Neoptolemos, John P, Lerch, Markus M, Tector, Matt, Sandhu, Bimaljit S, Guda, Nalini M, Orlichenko, Lidiya, Alkaade, Samer, Amann, Stephen T, Anderson, Michelle A, Baillie, John, Banks, Peter A, Conwell, Darwin, Coté, Gregory A, Cotton, Peter B, DiSario, James, Farrer, Lindsay A, Forsmark, Chris E, Johnstone, Marianne, Gardner, Timothy B, Gelrud, Andres, Greenhalf, William, Haines, Jonathan L, Hartman, Douglas J, Hawes, Robert A, Lawrence, Christopher, Lewis, Michele, Mayerle, Julia, Mayeux, Richard, Melhem, Nadine M, Money, Mary E, Muniraj, Thiruvengadam, Papachristou, Georgios I, Pericak-Vance, Margaret A, Romagnuolo, Joseph, Schellenberg, Gerard D, Sherman, Stuart, Simon, Peter, Singh, Vijay P, Slivka, Adam, Stolz, Donna, Sutton, Robert, Weiss, Frank Ulrich, Wilcox, C Mel, Zarnescu, Narcis Octavian, Wisniewski, Stephen R, O'Connell, Michael R, Kienholz, Michelle L, Roeder, Kathryn, Barmada, M Michael, Yadav, Dhiraj, and Devlin, Bernie

Subjects
Biological Sciences, Genetics, Clinical Research, Human Genome, Substance Misuse, Digestive Diseases, Alcoholism, Alcohol Use and Health, Prevention, Aetiology, 2.1 Biological and endogenous factors, Oral and gastrointestinal, Good Health and Well Being, Claudins, Female, Gene Frequency, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Homozygote, Humans, Male, Mutation, Pancreatitis, Alcoholic, Sex Factors, Trypsin, Trypsinogen, Alzheimer's Disease Genetics Consortium, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Pancreatitis is a complex, progressively destructive inflammatory disorder. Alcohol was long thought to be the primary causative agent, but genetic contributions have been of interest since the discovery that rare PRSS1, CFTR and SPINK1 variants were associated with pancreatitis risk. We now report two associations at genome-wide significance identified and replicated at PRSS1-PRSS2 (P < 1 × 10(-12)) and X-linked CLDN2 (P < 1 × 10(-21)) through a two-stage genome-wide study (stage 1: 676 cases and 4,507 controls; stage 2: 910 cases and 4,170 controls). The PRSS1 variant likely affects disease susceptibility by altering expression of the primary trypsinogen gene. The CLDN2 risk allele is associated with atypical localization of claudin-2 in pancreatic acinar cells. The homozygous (or hemizygous in males) CLDN2 genotype confers the greatest risk, and its alleles interact with alcohol consumption to amplify risk. These results could partially explain the high frequency of alcohol-related pancreatitis in men (male hemizygote frequency is 0.26, whereas female homozygote frequency is 0.07).

Published
2012

36. Diagnosis and treatment in chronic pancreatitis: an international survey and case vignette study

Author

Moody, Frank G., Bertrand, Claude, Johnson, Colin, van Lander, Aude, Carter, Ross, Conneely, John B., Berrevoet, Frederik, Sousa Silva, Donzília, Li, Zong-Fang, Lévy, Philippe, Oppong, Kofi, Gardner, Timothy B., Wilcox, C. Mel, French, Jeremy, Steer, Michael, Bradley, Edward L., III, Layer, Peter, Napoleon, Bertrand, Mosquera, Jorge Antonio, Gouma, D.J., Andersson, Roland, Manzelli, Antonio, Klaase, J.M., Falconi, Massimo, de-Madaria, Enrique, Casadei, Riccardo, Malleo, Giuseppe, Pezzilli, Raffaele, Malecka-Panas, Ewa, Lohr, Matthias, Mayerle, Julia, Rauws, Erik A.J., Freeman, Martin L., Ariffin, Affirul Chairil, Vasavada, Bhavin, Lai, Paul Bo-San, Beristain-Hernandez, Jose Luis, Juan, Álvarez, Plaudis, Haralds, Vrochides, Dionisios, Neri, Vincenzo, Velayutham, Vimalraj, Andrianov, Aleksey, Figueras, Joan, Soreide, Kjetil, Shcherba, Aliaksei, Gachabayov, Mahir, Keith, Roger G., Tsoulfas, Georgios, Fink, Michael Anthony, Crippa, Stefano, Nikfarjam, Mehrdad, Bora, Dibyajyoti, Desai, Rajendra, Donati, Marcello, Bong, Jan Jin, Martínez Moneo, Emma, Morris-Stiff, Gareth, Coker, Ahmet, de Resende, Alexandre Prado, Bhalerao, Suryabhan Sakhahari, Sikora, Sadiq S., Kelemen, Dezső, Czakó, László, Ramesh, Hariharan, Rummo, Oleg, Fedaruk, Aliaksei, Hlinnik, Alexey, Chinthakindi, Madhusudhan, Dumitrascu, Traian, Egorov, Vyacheslav, Bettschart, Vincent, Molinari, Michele, Guillermo, E. Aldana D., Orloff, Susan L., Kostov, Daniel Vasilev, Sulpice, Laurent, Knowles, Brett, Kimura, Yasutoshi, Marangoni, Gabriele, Joshi, Rajeev, Gyökeres, Tibor, Bedin, Vladimir, V., Ivanecz, Arpad, Antonucci, Adelmo, Omoshoro-Jones, Jones A.O., Nakache, Richard, Del Chiaro, Marco, Johnstone, Marianne, Saito, Tomoaki, Balzano, Gianpaolo, Chooklin, Serge, Boraschi, Piero, Park, Walter, Pereira, Pedro Nuno Valente Reis, Pagano, Nico, Lykoudis, Pavlos, Partecke, Lars Ivo, Siatkouski, Aliaksandr, Martín, Rosa Jorba, Kawabata, Yasunari, Lourenço, Luís Carvalho, Marra-Lopez, Carlos, Lee, Jun Kyu, Habbe, Nils, Verdonk, Robert C., Rabotyagova, Yliya, Talukdar, Rupjyoti, Frulloni, Luca, Galeev, Shamil, Berger, Zoltán, Yasuda, Takeo, Hackert, Thilo, Saatov, Ziyovuddin, Raptis, Dimitri Aristotle, Boadas, Jaume, Vitali, Francesco, Archibugi, Livia, Ryska, Miroslav, Tihanyi, Balazs, Singh, Vikesh K., Masamune, Atsushi, Yeaton, Paul, Smith, Kerrington D., Modi, Shrey, Cosen-Binker, Laura, Barreto, Savio George, Morandi, Eugenio, Valeri, Sergio, Morioka, Cintia Yoko, Lara, Luis F., Takeyama, Yoshifumi, Gress, Frank G., Yu, Young-Dong, Gaia, Ezio, Barbu, Sorin Traian, İnce, Ali Tüzün, Deeprasertvit, Akkraporn, Chang, Yu-Ting, Abiola, Stephen Olusola, Kacar, Sabite, Muscarella, Peter, II, Braat, Henri, Han, Samuel, Aghdassi, Ali A., Frossard, Jean-Louis, Smith, Jill P., Schwartz, M.P., van Dullemen, H.M., Venneman, N.G., Spanier, B.W.M., Kuiken, Sjoerd, van Geenen, Erwin, Beilman, Greg, Papachristou, Georgios, Chapa Azuela, Oscar, van der Schaar, P., Oruc, Nevin, Anten, Marie-Paule, Nealon, William H., García-Cano, Jesús, Jovani, Manol, Melki, Ziad, Ibrahim, Mustafa Mohammed Ahmed, Awajdarip, M.U., Azam, Mohammad, Sabu, K.G., Ermolaev, Igor, Shetty, Shiran, Oana, Belei, Pokrotnieks, Juris, Lazuchiewicz-Kot, Malgorzata, Bouali, Riadh, Winiarski, Marek, Schmitt, Marcus, Rimbas, Mihai, Meining, Alexander, Erwan, Bories, Meier, Peter N., Schoefl, Rainer, Altonbary, Ahmed Youssef, Marsteller, Igor, Wallstabe, Ingo, Prifti, Skerdi, Lemmers, Arnaud, Horvath, M., Kumar, Ajay, Palermo, Joseph J., Issa, Yama, van Santvoort, Hjalmar C., Fockens, Paul, Besselink, Marc G., Bollen, Thomas L., Bruno, Marco J., and Boermeester, Marja A.

Published
2017
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37. Effective encapsulation and biological activity of phosphorylated chemotherapeutics in calcium phosphosilicate nanoparticles for the treatment of pancreatic cancer

Author

Loc, Welley S., Linton, Samuel S., Wilczynski, Zachary R., Matters, Gail L., McGovern, Christopher O., Abraham, Thomas, Fox, Todd, Gigliotti, Christopher M., Tang, Xiaomeng, Tabakovic, Amra, Martin, Jo Ann, Clawson, Gary A., Smith, Jill P., Butler, Peter J., Kester, Mark, and Adair, James H.

Published
2017
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38. Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome

Author

Beysen, Diane, De Jaegere, Sarah, Amor, David, Bouchard, Philippe, Christin‐Maitre, Sophie, Fellous, Marc, Touraine, Philippe, Grix, Arthur W, Hennekam, Raoul, Meire, Françoise, Oyen, Nina, Wilson, Louise C, Barel, Dalit, Clayton‐Smith, Jill, de Ravel, Thomy, Decock, Christian, Delbeke, Patricia, Ensenauer, Regina, Ebinger, Friedrich, Gillessen‐Kaesbach, Gabriele, Hendriks, Yvonne, Kimonis, Virginia, Laframboise, Rachel, Laissue, Paul, Leppig, Kathleen, Leroy, Bart P, Miller, David T, Mowat, David, Neumann, Luitgard, Plomp, Astrid, Van Regemorter, Nicole, Wieczorek, Dagmar, Veitia, Reiner A, De Paepe, Anne, and De Baere, Elfride

Subjects
Genetics, Rare Diseases, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Adolescent, Adult, Amino Acid Sequence, Blepharophimosis, Child, Child, Preschool, Codon, Nonsense, DNA Mutational Analysis, Eyelids, Female, Forkhead Box Protein L2, Forkhead Transcription Factors, Frameshift Mutation, Genotype, Humans, Infant, Infant, Newborn, Male, Middle Aged, Molecular Sequence Data, Mutation, Missense, Pedigree, Phenotype, Primary Ovarian Insufficiency, Sequence Alignment, Young Adult, Clinical Sciences, Genetics & Heredity
Abstract

Blepharophimosis syndrome (BPES) is caused by loss-of-function mutations in the single-exon forkhead transcription factor gene FOXL2 and by genomic rearrangements of the FOXL2 locus. Here, we focus on 92 new intragenic FOXL2 mutations, 34 of which are novel. Specifically, we found 10 nonsense mutations (11%), 13 missense mutations (14%), 40 deletions or insertions leading to a frameshift (43%), and 29 in-frame changes (32%), of which 28 (30%) lead to a polyalanine expansion. This study confirms the existence of two previously described mutational hotspots. Moreover, we gained novel insights in genotype-phenotype correlations, emphasizing the need to interpret genotype-phenotype correlations individually and always in the context of further clinical observations.

Published
2008

40. Mowat-Wilson syndrome: growth charts

Author

Ivanovski, Ivan, Djuric, Olivera, Broccoli, Serena, Caraffi, Stefano Giuseppe, Accorsi, Patrizia, Adam, Margaret P., Avela, Kristina, Badura-Stronka, Magdalena, Bayat, Allan, Clayton-Smith, Jill, Cocco, Isabella, Cordelli, Duccio Maria, Cuturilo, Goran, Di Pisa, Veronica, Dupont Garcia, Juliette, Gastaldi, Roberto, Giordano, Lucio, Guala, Andrea, Hoei-Hansen, Christina, Inaba, Mie, Iodice, Alessandro, Nielsen, Jens Erik Klint, Kuburovic, Vladimir, Lazalde-Medina, Brissia, Malbora, Baris, Mizuno, Seiji, Moldovan, Oana, Møller, Rikke S., Muschke, Petra, Otelli, Valeria, Pantaleoni, Chiara, Piscopo, Carmelo, Poch-Olive, Maria Luisa, Prpic, Igor, Marín Reina, Purificación, Raviglione, Federico, Ricci, Emilia, Scarano, Emanuela, Simonte, Graziella, Smigiel, Robert, Tanteles, George, Tarani, Luigi, Trimouille, Aurelien, Valera, Elvis Terci, Schrier Vergano, Samantha, Writzl, Karin, Callewaert, Bert, Savasta, Salvatore, Street, Maria Elisabeth, Iughetti, Lorenzo, Bernasconi, Sergio, Giorgi Rossi, Paolo, and Garavelli, Livia

Published
2020
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49. Clinical and genetic variability in children with partial albinism

Author

Campbell, Patrick, Ellingford, Jamie M., Parry, Neil R. A., Fletcher, Tracy, Ramsden, Simon C., Gale, Theodora, Hall, Georgina, Smith, Katherine, Kasperaviciute, Dalia, Thomas, Ellen, Lloyd, I. Chris, Douzgou, Sofia, Clayton-Smith, Jill, Biswas, Susmito, Ashworth, Jane L., Black, Graeme C. M., and Sergouniotis, Panagiotis I.

Published
2019
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