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1. Gene expression signature predicts rate of type 1 diabetes progression

Author

Mathieu, Chantal, Gillard, Pieter, Casteels, Kristina, Overbergh, Lutgart, Dunger, David, Wallace, Chris, Evans, Mark, Thankamony, Ajay, Hendriks, Emile, Bruggraber, Sylvaine, Marcoveccchio, Loredana, Peakman, Mark, Tree, Timothy, Morgan, Noel G., Richardson, Sarah, Todd, John A., Wicker, Linda, Mander, Adrian, Dayan, Colin, Alhadj Ali, Mohammad, Pieber, Thomas, Eizirik, Decio L., Cnop, Myriam, Brunak, Søren, Pociot, Flemming, Johannesen, Jesper, Rossing, Peter, Quigley, Cristina Legido, Mallone, Roberto, Scharfmann, Raphael, Boitard, Christian, Knip, Mikael, Otonkoski, Timo, Veijola, Riitta, Lahesmaa, Riitta, Oresic, Matej, Toppari, Jorma, Danne, Thomas, Ziegler, Anette G., Achenbach, Peter, Rodriguez-Calvo, Teresa, Solimena, Michele, Bonifacio, Ezio E., Speier, Stephan, Holl, Reinhard, Dotta, Francesco, Chiarelli, Francesco, Marchetti, Piero, Bosi, Emanuele, Cianfarani, Stefano, Ciampalini, Paolo, De Beaufort, Carine, Dahl-Jørgensen, Knut, Skrivarhaug, Torild, Joner, Geir, Krogvold, Lars, Jarosz-Chobot, Przemka, Battelino, Tadej, Thorens, Bernard, Gotthardt, Martin, Roep, Bart O., Nikolic, Tanja, Zaldumbide, Arnaud, Lernmark, Ake, Lundgren, Marcus, Costacalde, Guillaume, Strube, Thorsten, Schulte, Anke M., Nitsche, Almut, Vela, Jose, Von Herrath, Matthias, Wesley, Johnna, Napolitano-Rosen, Antonella, Thomas, Melissa, Schloot, Nanette, Goldfine, Allison, Waldron-Lynch, Frank, Kompa, Jill, Vedala, Aruna, Hartmann, Nicole, Nicolas, Gwenaelle, van Rampelbergh, Jean, Bovy, Nicolas, Dutta, Sanjoy, Soderberg, Jeannette, Ahmed, Simi, Martin, Frank, Latres, Esther, Agiostratidou, Gina, Koralova, Anne, Willemsen, Ruben, Smith, Anne, Anand, Binu, Datta, Vipan, Puthi, Vijith, Zac-Varghese, Sagen, Dias, Renuka, Sundaram, Premkumar, Vaidya, Bijay, Patterson, Catherine, Owen, Katharine, Piel, Barbara, Heller, Simon, Randell, Tabitha, Gazis, Tasso, Reismen, Elise Bismuth, Carel, Jean-Claude, Riveline, Jean-Pierre, Gautier, Jean-Francoise, Andreelli, Fabrizion, Travert, Florence, Cosson, Emmanuel, Penfornis, Alfred, Petit, Catherine, Feve, Bruno, Lucidarme, Nadine, Beressi, Jean-Paul, Ajzenman, Catherina, Radu, Alina, Greteau-Hamoumou, Stephanie, Bibal, Cecile, Meissner, Thomas, Heidtmann, Bettina, Toni, Sonia, Rami-Merhar, Birgit, Eeckhout, Bart, Peene, Bernard, Vantongerloo, N., Maes, Toon, Gommers, Leen, Suomi, Tomi, Starskaia, Inna, Kalim, Ubaid Ullah, Rasool, Omid, Jaakkola, Maria K., Grönroos, Toni, Välikangas, Tommi, Brorsson, Caroline, Mazzoni, Gianluca, Overbergh, Lut, Chmura, Piotr, and Elo, Laura L.

Published
2023
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2. Gene expression signature predicts rate of type 1 diabetes progression

Author

Suomi, Tomi, primary, Starskaia, Inna, additional, Kalim, Ubaid Ullah, additional, Rasool, Omid, additional, Jaakkola, Maria K., additional, Grönroos, Toni, additional, Välikangas, Tommi, additional, Brorsson, Caroline, additional, Mazzoni, Gianluca, additional, Bruggraber, Sylvaine, additional, Overbergh, Lut, additional, Dunger, David, additional, Peakman, Mark, additional, Chmura, Piotr, additional, Brunak, Søren, additional, Schulte, Anke M., additional, Mathieu, Chantal, additional, Knip, Mikael, additional, Lahesmaa, Riitta, additional, Elo, Laura L., additional, Gillard, Pieter, additional, Casteels, Kristina, additional, Overbergh, Lutgart, additional, Wallace, Chris, additional, Evans, Mark, additional, Thankamony, Ajay, additional, Hendriks, Emile, additional, Marcoveccchio, Loredana, additional, Tree, Timothy, additional, Morgan, Noel G., additional, Richardson, Sarah, additional, Todd, John A., additional, Wicker, Linda, additional, Mander, Adrian, additional, Dayan, Colin, additional, Alhadj Ali, Mohammad, additional, Pieber, Thomas, additional, Eizirik, Decio L., additional, Cnop, Myriam, additional, Pociot, Flemming, additional, Johannesen, Jesper, additional, Rossing, Peter, additional, Quigley, Cristina Legido, additional, Mallone, Roberto, additional, Scharfmann, Raphael, additional, Boitard, Christian, additional, Otonkoski, Timo, additional, Veijola, Riitta, additional, Oresic, Matej, additional, Toppari, Jorma, additional, Danne, Thomas, additional, Ziegler, Anette G., additional, Achenbach, Peter, additional, Rodriguez-Calvo, Teresa, additional, Solimena, Michele, additional, Bonifacio, Ezio E., additional, Speier, Stephan, additional, Holl, Reinhard, additional, Dotta, Francesco, additional, Chiarelli, Francesco, additional, Marchetti, Piero, additional, Bosi, Emanuele, additional, Cianfarani, Stefano, additional, Ciampalini, Paolo, additional, De Beaufort, Carine, additional, Dahl-Jørgensen, Knut, additional, Skrivarhaug, Torild, additional, Joner, Geir, additional, Krogvold, Lars, additional, Jarosz-Chobot, Przemka, additional, Battelino, Tadej, additional, Thorens, Bernard, additional, Gotthardt, Martin, additional, Roep, Bart O., additional, Nikolic, Tanja, additional, Zaldumbide, Arnaud, additional, Lernmark, Ake, additional, Lundgren, Marcus, additional, Costacalde, Guillaume, additional, Strube, Thorsten, additional, Nitsche, Almut, additional, Vela, Jose, additional, Von Herrath, Matthias, additional, Wesley, Johnna, additional, Napolitano-Rosen, Antonella, additional, Thomas, Melissa, additional, Schloot, Nanette, additional, Goldfine, Allison, additional, Waldron-Lynch, Frank, additional, Kompa, Jill, additional, Vedala, Aruna, additional, Hartmann, Nicole, additional, Nicolas, Gwenaelle, additional, van Rampelbergh, Jean, additional, Bovy, Nicolas, additional, Dutta, Sanjoy, additional, Soderberg, Jeannette, additional, Ahmed, Simi, additional, Martin, Frank, additional, Latres, Esther, additional, Agiostratidou, Gina, additional, Koralova, Anne, additional, Willemsen, Ruben, additional, Smith, Anne, additional, Anand, Binu, additional, Datta, Vipan, additional, Puthi, Vijith, additional, Zac-Varghese, Sagen, additional, Dias, Renuka, additional, Sundaram, Premkumar, additional, Vaidya, Bijay, additional, Patterson, Catherine, additional, Owen, Katharine, additional, Piel, Barbara, additional, Heller, Simon, additional, Randell, Tabitha, additional, Gazis, Tasso, additional, Reismen, Elise Bismuth, additional, Carel, Jean-Claude, additional, Riveline, Jean-Pierre, additional, Gautier, Jean-Francoise, additional, Andreelli, Fabrizion, additional, Travert, Florence, additional, Cosson, Emmanuel, additional, Penfornis, Alfred, additional, Petit, Catherine, additional, Feve, Bruno, additional, Lucidarme, Nadine, additional, Beressi, Jean-Paul, additional, Ajzenman, Catherina, additional, Radu, Alina, additional, Greteau-Hamoumou, Stephanie, additional, Bibal, Cecile, additional, Meissner, Thomas, additional, Heidtmann, Bettina, additional, Toni, Sonia, additional, Rami-Merhar, Birgit, additional, Eeckhout, Bart, additional, Peene, Bernard, additional, Vantongerloo, N., additional, Maes, Toon, additional, and Gommers, Leen, additional

Published
2023
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3. Transient Neonatal Diabetes, ZFP57, and Hypomethylation of Multiple Imprinted Loci: A detailed follow-up

Author

Boonen, Susanne E., Mackay, Deborah J.G., Hahnemann, Johanne M.D., Docherty, Louise, Grønskov, Karen, Lehmann, Anna, Larsen, Lise G., Haemers, Andreas P., Kockaerts, Yves, Dooms, Lutgarde, Vũ, Dũng Chí, Ngoc, C.T. Bich, Nguyen, Phuong Bich, Kordonouri, Olga, Sundberg, Frida, Dayanikli, Pinar, Puthi, Vijith, Acerini, Carlo, Massoud, Ahmed F., Tümer, Zeynep, and Temple, I. Karen

Published
2013
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8. Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ

Author

Nicholas, Adeline K, Serra, Eva G, Cangul, Hakan, Alyaarubi, Saif, Ullah, Irfan, Schoenmakers, Erik, Deeb, Asma, Habeb, Abdelhadi M, Almaghamsi, Mohammad, Peters, Catherine, Nathwani, Nisha, Aycan, Zehra, Saglam, Halil, Bober, Ece, Dattani, Mehul, Shenoy, Savitha, Murray, Philip G, Babiker, Amir, Willemsen, Ruben, Thankamony, Ajay, Lyons, Greta, Irwin, Rachael, Padidela, Raja, Tharian, Kavitha, Davies, Justin H, Puthi, Vijith, Park, Soo-Mi, Massoud, Ahmed F, Gregory, John W, Albanese, Assunta, Pease-Gevers, Evelien, Martin, Howard, Brugger, Kim, Maher, Eamonn R, Chatterjee, V Krishna K, Anderson, Carl A, Schoenmakers, Nadia, Schoenmakers, Erik [0000-0003-0674-8282], Maher, Eamonn [0000-0002-6226-6918], Chatterjee, Krishna [0000-0002-2654-8854], Schoenmakers, Nadia [0000-0002-0847-2884], and Apollo - University of Cambridge Repository

Subjects
Congenital Hypothyroidism/genetics, endocrine system, Genetic Screening, Iron-Binding Proteins/genetics, Receptors, Thyrotropin/genetics, Receptors, Thyrotropin, Original Articles, Autoantigens/genetics, Gene, R1, Iodide Peroxidase/genetics, Autoantigens, Iodide Peroxidase, Thyroglobulin, Pedigree, Phenotype, Thyroglobulin/genetics, Iron-Binding Proteins, Mutation, Congenital Hypothyroidism, Humans
Abstract

Context: Lower TSH screening cutoffs have doubled the ascertainment of congenital hypothyroidism (CH), particularly cases with a eutopically located gland-in-situ (GIS). Although mutations in known dyshormonogenesis genes or TSHR underlie some cases of CH with GIS, systematic screening of these eight genes has not previously been undertaken. Objective: Our objective was to evaluate the contribution and molecular spectrum of mutations in eight known causative genes (TG, TPO, DUOX2, DUOXA2, SLC5A5, SLC26A4, IYD, and TSHR) in CH cases with GIS. Patients, Design, and Setting: We screened 49 CH cases with GIS from 34 ethnically diverse families, using next-generation sequencing. Pathogenicity of novel mutations was assessed in silico. Results: Twenty-nine cases harbored likely disease-causing mutations. Monogenic defects (19 cases) most commonly involved TG (12), TPO (four), DUOX2 (two), and TSHR (one). Ten cases harbored triallelic (digenic) mutations: TG and TPO (one); SLC26A4 and TPO (three), and DUOX2 and TG (six cases). Novel variants overall included 15 TG, six TPO, and three DUOX2 mutations. Genetic basis was not ascertained in 20 patients, including 14 familial cases. Conclusions: The etiology of CH with GIS remains elusive, with only 59% attributable to mutations in TSHR or known dyshormonogenesis-associated genes in a cohort enriched for familial cases. Biallelic TG or TPO mutations most commonly underlie severe CH. Triallelic defects are frequent, mandating future segregation studies in larger kindreds to assess their contribution to variable phenotype. A high proportion (∼41%) of unsolved or ambiguous cases suggests novel genetic etiologies that remain to be elucidated., TG, TPO, DUOX2, DUOXA2, SLC5A5, SLC26A4, IYD and TSHR genes were screened in 49 cases of congenital hypothyroidism with eutopic gland-in-situ. 59% were solved including cases with triallelic mutations.

Published
2016
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9. Comprehensive screening of eight known causative genes in congenital hypothyroidism with gland-in-situ

Author

Nicholas, Adeline K., Serra, Eva G., Cangül, Hakan, Alyaarubi, Saif, Ullah, Irfan, Schoenmakers, Erik, Deeb, Asma, Habeb, Abdelhadi M., Almaghamsi, Mohammad, Peters, Catherine, Nathwani, Nisha, Aycan, Zehra, Bober, Ece, Dattani, Mehul, Shenoy, Savitha, Murray, Philip G., Babiker, Amir, Willemsen, Ruben, Thankamony, Ajay, Lyons, Greta, Irwin, Rachael, Padidela, Raja, Tharian, Kavitha, Davies, Justin H., Puthi, Vijith, Park, Soo-Mi, Massoud, Ahmed F., Gregory, John W., Albanese, Assunta, Pease-Gevers, Evelien, Martin, Howard, Brugger, Kim, Maher, Eamonn R., Chatterjee, V. Krishna K., Anderson, Carl A., Schoenmakers, Nadia, Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı., Sağlam, Halil, and C-7392-2019

Subjects
TPO protein, TG gene, Iodide peroxidase, Dual Oxidases, Congenital Hypothyroidism, Oxidoreductases, IYD gene, Autoantigens, Gene, Receptor gene, Thyroglobulin gene, Computer model, Phenomics, DUOX2 gene, Endocrinology & metabolism, Priority journal, Allele, Iodide organification defects, Goiter, Sequence analysis, TSHR gene, Pedigree, Phenotype, Iron-binding proteins, Cohort analysis, Human, TPO gene, Clinical article, Population, DNA sequence, Thyrotropin receptor, Guidelines, Thyroglobulin, Article, Autoantigen, Next generation sequencing, Genetic screening, Genetics, Humans, Pathogenicity, Genetic variation, Iron binding protein, Gene mutation, Receptors, thyrotropin, SLC5A5 gene, Congenital hypothyroidism, Japanese patients, DUOX2 mutations, Mutation, Genetic association, SLC26A4 gene, DUOXA2 gene, Dyshormonogenesis
Abstract

Context: Lower TSH screening cutoffs have doubled the ascertainment of congenital hypothyroidism (CH), particularly cases with a eutopically located gland-in-situ (GIS). Although mutations in known dyshormonogenesis genes or TSHR underlie some cases of CH with GIS, systematic screening of these eight genes has not previously been undertaken. Objective: Our objective was to evaluate the contribution and molecular spectrum of mutations in eight known causative genes (TG, TPO, DUOX2, DUOXA2, SLC5A5, SLC26A4, IYD, and TSHR) in CH cases with GIS. Patients, Design, and Setting:We screened 49 CH cases with GIS from 34 ethnically diverse families, using next-generation sequencing. Pathogenicity of novel mutations was assessed in silica. Results: Twenty-nine cases harbored likely disease-causing mutations. Monogenic defects (19 cases) most commonly involved TG (12), TPO (four), DUOX2 (two), and TSHR (one). Ten cases harbored triallelic (digenic) mutations: TG and TPO (one); SLC26A4 and TPO (three), and DUOX2 and TG (six cases). Novel variants overall included 15 TG, six TPO, and three DUOX2 mutations. Genetic basis was not ascertained in 20 patients, including 14 familial cases. Conclusions: The etiology of CH with GIS remains elusive, with only 59% attributable to mutations in TSHR or known dyshormonogenesis-associated genes in a cohort enriched for familial cases. Biallelic TG or TPO mutations most commonly underlie severe CH. Triallelic defects are frequent, mandating future segregation studies in larger kindreds to assess their contribution to variable phenotype. A high proportion (-41%) of unsolved or ambiguous cases suggests novel genetic etiologies that remain to be elucidated. Wellcome Trust European Commission - 100585/Z/12/Z - 095564/Z/11/Z - 098051 - WT091310 UK Research & Innovation (UKRI) Medical Research Council UK (MRC) - MC_UU_12012/5/B European Commission National Institute for Health Research (NIHR) - (NF-SI-0514-10176) NIHR (CL-2012-06-005)

Published
2016

12. Investigating the genetic architecture of gland-in-situ congenital hypothyroidism by comprehensive screening of eight known causative genes

Author

Nicholas, Adeline K, primary, Serra, Eva Goncalves, additional, Cangul, Hakan, additional, Al-Yaarubi, Saif, additional, Ullah, Irfan, additional, Habeb, Abdelhadi, additional, Deeb, Asma, additional, Peters, Catherine, additional, Dattani, Mehul, additional, Shenoy, Savitha, additional, Murray, P G, additional, Puthi, Vijith, additional, Park, Soo-Mi, additional, Nathwani, Nisha, additional, Babiker, Amir, additional, Martin, Howard, additional, Anderson, Carl A, additional, Maher, Eamonn, additional, Chatterjee, V Krishna, additional, and Schoenmakers, Nadia, additional

Published
2015
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13. Can proportion of children achieving HbA1c below 58 mmol/mol within the first year of diagnosis be used as a standard of quality of care provided for children with type 1 diabetes?

Author

Harrison, Clare, primary, Wilkinson, Ingrid, additional, Anand, Binu, additional, Furley, Rachel, additional, Abdullah, Nadeem, additional, Bhandari, Jasjit, additional, Puthi, Vijith, additional, Rafiq, Anjum, additional, Lim, Sharon, additional, Manoharan, Karthikeyini, additional, Gomez, Alina, additional, Harham, Bharat, additional, Bude, Lija, additional, and Datta, Vipan, additional

Published
2014
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14. Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci:a detailed follow-up

Author

Boonen, Susanne E, Mackay, Deborah J G, Hahnemann, Johanne M D, Docherty, Louise, Grønskov, Karen, Lehmann, Anna, Larsen, Lise G, Haemers, Andreas P, Kockaerts, Yves, Dooms, Lutgarde, Vu, Dung Chí, Ngoc, C T Bich, Nguyen, Phuong Bich, Kordonouri, Olga, Sundberg, Frida, Dayanikli, Pinar, Puthi, Vijith, Acerini, Carlo, Massoud, Ahmed F, Tümer, Zeynep, Temple, I Karen, Boonen, Susanne E, Mackay, Deborah J G, Hahnemann, Johanne M D, Docherty, Louise, Grønskov, Karen, Lehmann, Anna, Larsen, Lise G, Haemers, Andreas P, Kockaerts, Yves, Dooms, Lutgarde, Vu, Dung Chí, Ngoc, C T Bich, Nguyen, Phuong Bich, Kordonouri, Olga, Sundberg, Frida, Dayanikli, Pinar, Puthi, Vijith, Acerini, Carlo, Massoud, Ahmed F, Tümer, Zeynep, and Temple, I Karen

Abstract

Transient neonatal diabetes mellitus 1 (TNDM1) is the most common cause of diabetes presenting at birth. Approximately 5% of the cases are due to recessive ZFP57 mutations, causing hypomethylation at the TNDM locus and other imprinted loci (HIL). This has consequences for patient care because it has impact on the phenotype and recurrence risk for families. We have determined the genotype, phenotype, and epigenotype of the first 10 families to alert health professionals to this newly described genetic subgroup of diabetes.

Published
2013

17. Presentation and characteristics of children with screen-detected type 1 diabetes: learnings from the ELSA general population pediatric screening study.

Author

Quinn LM, Dias RP, Bidder C, Bhowmik S, Bumke K, Ganapathi J, Gorman S, Hind E, Karandikar S, Kumar K, Lipscomb N, McGovern S, Puthi VR, Randell T, Watts G, and Narendran P

Subjects
Humans, Child, Male, Female, Adolescent, Child, Preschool, Glycated Hemoglobin analysis, Insulin therapeutic use, Insulin administration & dosage, Autoantibodies blood, Follow-Up Studies, Biomarkers analysis, Biomarkers blood, Prognosis, Diabetes Mellitus, Type 1 epidemiology, Diabetes Mellitus, Type 1 diagnosis, Mass Screening methods
Abstract

Introduction: We describe the identification and management of general population screen-detected type 1 diabetes (T1D) and share learnings for best practice., Research Design and Methods: Children diagnosed with T1D through a general population screening initiative, the EarLy Surveillance for Autoimmune diabetes (ELSA) study, were reviewed and described.Parents provided written, informed consent for inclusion in the case series., Results: 14 children with insulin requiring (stage 3) T1D are described. These cases offer unique insights into the features of screen-detected T1D. T1D is identified sooner through screening programs, characterized by absent/short symptom duration, median presenting glycated hemoglobin 6.6% (49 mmol/mol) and insulin requirements<0.5 units/kg/day. ELSA identified four children at stage 3 and another 4 progressed within 4 months of ELSA completion, including two single seropositive children. Six children developed stage 3 T1D prior to ELSA completion, including two children (14%, n=2/14) with diabetic ketoacidosis prior to confirmed antibody status., Conclusions: There are three main learnings from this case series. First, T1D identified through screening is at an earlier stage of its natural history and requires personalized insulin regimens with lower total daily insulin doses. Second, single autoantibody seropositivity can rapidly progress to stage 3. Finally, insulin requirement can manifest at any stage of the T1D screening pathway, and therefore early education around symptom recognition is essential for families participating in screening programs., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Published
2024
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