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1. A new neurodevelopmental disorder linked to heterozygous variants in UNC79

Author

Allan Bayat, Zhenjiang Liu, Sheng Luo, Christina D. Fenger, Anne F. Hojte, Bertrand Isidor, Benjamin Cogne, Austin Larson, Caterina Zanus, Faletra Flavio, Boris Keren, Luciana Musante, Isabelle Gourfinkel-An, Charles Perrine, Caroline Demily, Gaeton Lesca, Weiping Liao, and Dejian Ren

Subjects
Genetics (clinical)
Published
2023

2. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

Author

Wain, Louise V, Verwoert, Germaine C, O'Reilly, Paul F, Shi, Gang, Johnson, Toby, Johnson, Andrew D, Bochud, Murielle, Rice, Kenneth M, Henneman, Peter, Smith, Albert V, Ehret, Georg B, Amin, Najaf, Larson, Martin G, Mooser, Vincent, Hadley, David, Dörr, Marcus, Bis, Joshua C, Aspelund, Thor, Esko, Tõnu, Janssens, A Cecile JW, Zhao, Jing Hua, Heath, Simon, Laan, Maris, Fu, Jingyuan, Pistis, Giorgio, Luan, Jian'an, Arora, Pankaj, Lucas, Gavin, Pirastu, Nicola, Pichler, Irene, Jackson, Anne U, Webster, Rebecca J, Zhang, Feng, Peden, John F, Schmidt, Helena, Tanaka, Toshiko, Campbell, Harry, Igl, Wilmar, Milaneschi, Yuri, Hottenga, Jouke-Jan, Vitart, Veronique, Chasman, Daniel I, Trompet, Stella, Bragg-Gresham, Jennifer L, Alizadeh, Behrooz Z, Chambers, John C, Guo, Xiuqing, Lehtimäki, Terho, Kühnel, Brigitte, Lopez, Lorna M, Polašek, Ozren, Boban, Mladen, Nelson, Christopher P, Morrison, Alanna C, Pihur, Vasyl, Ganesh, Santhi K, Hofman, Albert, Kundu, Suman, Mattace-Raso, Francesco US, Rivadeneira, Fernando, Sijbrands, Eric JG, Uitterlinden, Andre G, Hwang, Shih-Jen, Vasan, Ramachandran S, Wang, Thomas J, Bergmann, Sven, Vollenweider, Peter, Waeber, Gérard, Laitinen, Jaana, Pouta, Anneli, Zitting, Paavo, McArdle, Wendy L, Kroemer, Heyo K, Völker, Uwe, Völzke, Henry, Glazer, Nicole L, Taylor, Kent D, Harris, Tamara B, Alavere, Helene, Haller, Toomas, Keis, Aime, Tammesoo, Mari-Liis, Aulchenko, Yurii, Barroso, Inês, Khaw, Kay-Tee, Galan, Pilar, Hercberg, Serge, Lathrop, Mark, Eyheramendy, Susana, Org, Elin, Sõber, Siim, Lu, Xiaowen, Nolte, Ilja M, Penninx, Brenda W, Corre, Tanguy, Masciullo, Corrado, Sala, Cinzia, Groop, Leif, Voight, Benjamin F, Melander, Olle, O'Donnell, Christopher J, Salomaa, Veikko, D'Adamo, Adamo Pio, Fabretto, Antonella, Faletra, Flavio, Ulivi, Sheila, Del Greco, Fabiola M, Facheris, Maurizio, Collins, Francis S, Bergman, Richard N, Beilby, John P, Hung, Joseph, Musk, A William, Mangino, Massimo, Shin, So-Youn, Soranzo, Nicole, Watkins, Hugh, Goel, Anuj, Hamsten, Anders, Gider, Pierre, Loitfelder, Marisa, Zeginigg, Marion, Hernandez, Dena, Najjar, Samer S, Navarro, Pau, Wild, Sarah H, Corsi, Anna Maria, Singleton, Andrew, De Geus, Eco JC, Willemsen, Gonneke, Parker, Alex N, Rose, Lynda M, Buckley, Brendan, Stott, David, Orru, Marco, Uda, Manuela, LifeLines Cohort Study, Van Der Klauw, Melanie M, Zhang, Weihua, Li, Xinzhong, Scott, James, Chen, Yii-Der Ida, Burke, Gregory L, Kähönen, Mika, Viikari, Jorma, Döring, Angela, Meitinger, Thomas, Davies, Gail, Starr, John M, Emilsson, Valur, Plump, Andrew, Lindeman, Jan H, Hoen, Peter AC 'T, König, Inke R, EchoGen Consortium, Felix, Janine F, Clarke, Robert, Hopewell, Jemma C, Ongen, Halit, Breteler, Monique, Debette, Stéphanie, Destefano, Anita L, Fornage, Myriam, AortaGen Consortium, Mitchell, Gary F, CHARGE Consortium Heart Failure Working Group, Smith, Nicholas L, KidneyGen Consortium, Holm, Hilma, Stefansson, Kari, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, CKDGen Consortium, Cardiogenics Consortium, CardioGram, Samani, Nilesh J, Preuss, Michael, Rudan, Igor, Hayward, Caroline, Deary, Ian J, Wichmann, H-Erich, Raitakari, Olli T, Palmas, Walter, Kooner, Jaspal S, Stolk, Ronald P, Jukema, J Wouter, Wright, Alan F, Boomsma, Dorret I, Bandinelli, Stefania, Gyllensten, Ulf B, Wilson, James F, Ferrucci, Luigi, Schmidt, Reinhold, Farrall, Martin, Spector, Tim D, Palmer, Lyle J, Tuomilehto, Jaakko, Pfeufer, Arne, Gasparini, Paolo, Siscovick, David, Altshuler, David, Loos, Ruth JF, Toniolo, Daniela, Snieder, Harold, Gieger, Christian, Meneton, Pierre, Wareham, Nicholas J, Oostra, Ben A, Metspalu, Andres, Launer, Lenore, Rettig, Rainer, Strachan, David P, Beckmann, Jacques S, Witteman, Jacqueline CM, Erdmann, Jeanette, Van Dijk, Ko Willems, Boerwinkle, Eric, Boehnke, Michael, Ridker, Paul M, Jarvelin, Marjo-Riitta, Chakravarti, Aravinda, Abecasis, Goncalo R, Gudnason, Vilmundur, Newton-Cheh, Christopher, Levy, Daniel, Munroe, Patricia B, Psaty, Bruce M, Caulfield, Mark J, Rao, Dabeeru C, Tobin, Martin D, Elliott, Paul, and Van Duijn, Cornelia M

Subjects
Genetic Loci, Case-Control Studies, Hypertension, Humans, Blood Pressure, cardiovascular diseases, Arteries, Polymorphism, Single Nucleotide, Linkage Disequilibrium, circulatory and respiratory physiology, Follow-Up Studies, Genome-Wide Association Study
Abstract

Numerous genetic loci have been associated with systolic blood pressure (SBP) and diastolic blood pressure (DBP) in Europeans. We now report genome-wide association studies of pulse pressure (PP) and mean arterial pressure (MAP). In discovery (N = 74,064) and follow-up studies (N = 48,607), we identified at genome-wide significance (P = 2.7 × 10(-8) to P = 2.3 × 10(-13)) four new PP loci (at 4q12 near CHIC2, 7q22.3 near PIK3CG, 8q24.12 in NOV and 11q24.3 near ADAMTS8), two new MAP loci (3p21.31 in MAP4 and 10q25.3 near ADRB1) and one locus associated with both of these traits (2q24.3 near FIGN) that has also recently been associated with SBP in east Asians. For three of the new PP loci, the estimated effect for SBP was opposite of that for DBP, in contrast to the majority of common SBP- and DBP-associated variants, which show concordant effects on both traits. These findings suggest new genetic pathways underlying blood pressure variation, some of which may differentially influence SBP and DBP.

Published
2018
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3. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

Author

Wain, Louise V, Verwoert, Germaine C, O'Reilly, Paul F, Shi, Gang, Johnson, Toby, Johnson, Andrew D, Bochud, Murielle, Rice, Kenneth M, Henneman, Peter, Smith, Albert V, Ehret, Georg B, Amin, Najaf, Larson, Martin G, Mooser, Vincent, Hadley, David, Dörr, Marcus, Bis, Joshua C, Aspelund, Thor, Esko, Tõnu, Janssens, A Cecile JW, Zhao, Jing Hua, Heath, Simon, Laan, Maris, Fu, Jingyuan, Pistis, Giorgio, Luan, Jian'an, Arora, Pankaj, Lucas, Gavin, Pirastu, Nicola, Pichler, Irene, Jackson, Anne U, Webster, Rebecca J, Zhang, Feng, Peden, John F, Schmidt, Helena, Tanaka, Toshiko, Campbell, Harry, Igl, Wilmar, Milaneschi, Yuri, Hottenga, Jouke-Jan, Vitart, Veronique, Chasman, Daniel I, Trompet, Stella, Bragg-Gresham, Jennifer L, Alizadeh, Behrooz Z, Chambers, John C, Guo, Xiuqing, Lehtimäki, Terho, Kühnel, Brigitte, Lopez, Lorna M, Polašek, Ozren, Boban, Mladen, Nelson, Christopher P, Morrison, Alanna C, Pihur, Vasyl, Ganesh, Santhi K, Hofman, Albert, Kundu, Suman, Mattace-Raso, Francesco US, Rivadeneira, Fernando, Sijbrands, Eric JG, Uitterlinden, Andre G, Hwang, Shih-Jen, Vasan, Ramachandran S, Wang, Thomas J, Bergmann, Sven, Vollenweider, Peter, Waeber, Gérard, Laitinen, Jaana, Pouta, Anneli, Zitting, Paavo, McArdle, Wendy L, Kroemer, Heyo K, Völker, Uwe, Völzke, Henry, Glazer, Nicole L, Taylor, Kent D, Harris, Tamara B, Alavere, Helene, Haller, Toomas, Keis, Aime, Tammesoo, Mari-Liis, Aulchenko, Yurii, Barroso, Inês, Khaw, Kay-Tee, Galan, Pilar, Hercberg, Serge, Lathrop, Mark, Eyheramendy, Susana, Org, Elin, Sõber, Siim, Lu, Xiaowen, Nolte, Ilja M, Penninx, Brenda W, Corre, Tanguy, Masciullo, Corrado, Sala, Cinzia, Groop, Leif, Voight, Benjamin F, Melander, Olle, O'Donnell, Christopher J, Salomaa, Veikko, d'Adamo, Adamo Pio, Fabretto, Antonella, Faletra, Flavio, Ulivi, Sheila, Del Greco, Fabiola M, Facheris, Maurizio, Collins, Francis S, Bergman, Richard N, Beilby, John P, Hung, Joseph, Musk, A William, Mangino, Massimo, Shin, So-Youn, Soranzo, Nicole, Watkins, Hugh, Goel, Anuj, Hamsten, Anders, Gider, Pierre, Loitfelder, Marisa, Zeginigg, Marion, Hernandez, Dena, Najjar, Samer S, Navarro, Pau, Wild, Sarah H, Corsi, Anna Maria, Singleton, Andrew, de Geus, Eco JC, Willemsen, Gonneke, Parker, Alex N, Rose, Lynda M, Buckley, Brendan, Stott, David, Orru, Marco, Uda, Manuela, LifeLines Cohort Study, van der Klauw, Melanie M, Zhang, Weihua, Li, Xinzhong, Scott, James, Chen, Yii-Der Ida, Burke, Gregory L, Kähönen, Mika, Viikari, Jorma, Döring, Angela, Meitinger, Thomas, Davies, Gail, Starr, John M, Emilsson, Valur, Plump, Andrew, Lindeman, Jan H, Hoen, Peter AC 't, König, Inke R, EchoGen consortium, Felix, Janine F, Clarke, Robert, Hopewell, Jemma C, Ongen, Halit, Breteler, Monique, Debette, Stéphanie, Destefano, Anita L, Fornage, Myriam, AortaGen Consortium, Mitchell, Gary F, CHARGE Consortium Heart Failure Working Group, Smith, Nicholas L, KidneyGen consortium, Holm, Hilma, Stefansson, Kari, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, CKDGen consortium, Cardiogenics consortium, CardioGram, Samani, Nilesh J, Preuss, Michael, Rudan, Igor, Hayward, Caroline, Deary, Ian J, Wichmann, H-Erich, Raitakari, Olli T, Palmas, Walter, Kooner, Jaspal S, Stolk, Ronald P, Jukema, J Wouter, Wright, Alan F, Boomsma, Dorret I, Bandinelli, Stefania, Gyllensten, Ulf B, Wilson, James F, Ferrucci, Luigi, Schmidt, Reinhold, Farrall, Martin, Spector, Tim D, Palmer, Lyle J, Tuomilehto, Jaakko, Pfeufer, Arne, Gasparini, Paolo, Siscovick, David, Altshuler, David, Loos, Ruth JF, Toniolo, Daniela, Snieder, Harold, Gieger, Christian, Meneton, Pierre, Wareham, Nicholas J, Oostra, Ben A, Metspalu, Andres, Launer, Lenore, Rettig, Rainer, Strachan, David P, Beckmann, Jacques S, Witteman, Jacqueline CM, Erdmann, Jeanette, van Dijk, Ko Willems, Boerwinkle, Eric, Boehnke, Michael, Ridker, Paul M, Jarvelin, Marjo-Riitta, Chakravarti, Aravinda, Abecasis, Goncalo R, Gudnason, Vilmundur, Newton-Cheh, Christopher, Levy, Daniel, Munroe, Patricia B, Psaty, Bruce M, Caulfield, Mark J, Rao, Dabeeru C, Tobin, Martin D, Elliott, Paul, van Duijn, Cornelia M, Zhao, Jing Hua [0000-0003-4930-3582], Luan, Jian'an [0000-0003-3137-6337], Barroso, Ines [0000-0001-5800-4520], Khaw, Kay-Tee [0000-0002-8802-2903], Soranzo, Nicole [0000-0003-1095-3852], Wareham, Nicholas [0000-0003-1422-2993], and Apollo - University of Cambridge Repository

Subjects
Genetic Loci, Case-Control Studies, Hypertension, Humans, Blood Pressure, cardiovascular diseases, Arteries, Polymorphism, Single Nucleotide, Linkage Disequilibrium, circulatory and respiratory physiology, Follow-Up Studies, Genome-Wide Association Study
Abstract

Numerous genetic loci have been associated with systolic blood pressure (SBP) and diastolic blood pressure (DBP) in Europeans. We now report genome-wide association studies of pulse pressure (PP) and mean arterial pressure (MAP). In discovery (N = 74,064) and follow-up studies (N = 48,607), we identified at genome-wide significance (P = 2.7 × 10(-8) to P = 2.3 × 10(-13)) four new PP loci (at 4q12 near CHIC2, 7q22.3 near PIK3CG, 8q24.12 in NOV and 11q24.3 near ADAMTS8), two new MAP loci (3p21.31 in MAP4 and 10q25.3 near ADRB1) and one locus associated with both of these traits (2q24.3 near FIGN) that has also recently been associated with SBP in east Asians. For three of the new PP loci, the estimated effect for SBP was opposite of that for DBP, in contrast to the majority of common SBP- and DBP-associated variants, which show concordant effects on both traits. These findings suggest new genetic pathways underlying blood pressure variation, some of which may differentially influence SBP and DBP.

Published
2011

4. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Author

Radio, Francesca Clementina, Pang, Kaifang, Ciolfi, Andrea, Levy, Michael A., Pedace, Lucia, Boer, Elke, Jackson, Adam, Stellacci, Emilia, Lo Cicero, Stefania, Dentici, Maria Lisa, Mcwalter, Kirsty, Sanchez-Lara, Pedro A., Lindstrom, Kristin, Madan-Khetarpal, Suneeta, Mackenzie, Jennifer J., Monteleone, Berrin, Zhou, Dihong, Sawyer, Sarah L., Monteiro, Fabiola Paoli, Macke, Erica L., Maria Iascone, Selicorni, Angelo, Tenconi, Romano, Amor, David J., Stals, Karen, Cabet, Sara, Steindl, Katharina, Weiss, Karin, Castle, Alison M. R., Kalsner, Louisa, Chandler, Kate E., Sheehan, Willow, Shinde, Deepali N., Goodloe, Dana, Bluske, Krista, Faletra, Flavio, Kurtz-Nelson, Evangeline C., Anderlid, Britt-Marie, Barakat, Tahsin Stefan, Graham, John M., Faivre, Laurence, Banka, Siddharth, Wang, Tianyun, Priolo, Manuela, Dallapiccola, Bruno, Vissers, Lisenka E. L. M., Sadikovic, Bekim, Scott, Daryl A., Holder, Jimmy Lloyd, and Tartaglia, Marco

5. The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge

Author

Luciana Musante, Paola Costa, Caterina Zanus, Flavio Faletra, Flora M. Murru, Anna M. Bianco, Martina La Bianca, Giulia Ragusa, Emmanouil Athanasakis, Adamo P. d’Adamo, Marco Carrozzi, Paolo Gasparini, Musante, Luciana, Costa, Paola, Zanus, Caterina, Faletra, Flavio, Murru, Flora M., Bianco, Anna M., La Bianca, Martina, Ragusa, Giulia, Athanasakis, Emmanouil, D’Adamo, Adamo P., Carrozzi, Marco, and Gasparini, Paolo

Subjects
neurodevelopmental disorders (NDDs), epileptic encephalopathies (EEs), developmental and epileptic encephalopathies (DEEs), whole-exome sequencing (WES), reverse phenotyping, ndds, ees, we, and epileptic encephalopathies, Exome Sequencing, Genetics, epileptic encephalopathies, developmental, Humans, wes, whole-exome sequencing, Genetic Testing, dees, neurodevelopmental disorders, Genetics (clinical), Genetic Association Studies, Aged, ndd, epileptic encephalopathie, Brain Diseases, ee, neurodevelopmental disorder, Quality of Life, and epileptic encephalopathie, dee
Abstract

Epileptic encephalopathies (EEs) and developmental and epileptic encephalopathies (DEEs) are a group of severe early-onset neurodevelopmental disorders (NDDs). In recent years, next-generation equencing (NGS) technologies enabled the discovery of numerous genes involved in these conditions. However, more than 50% of patients remained undiagnosed. A major obstacle lies in the high degree of genetic heterogeneity and the wide phenotypic variability that has characterized these disorders. Interpreting a large amount of NGS data is also a crucial challenge. This study describes a dynamic diagnostic procedure used to investigate 17 patients with DEE or EE with previous negative or inconclusive genetic testing by whole-exome sequencing (WES), leading to a definite diagnosis in about 59% of participants. Biallelic mutations caused most of the diagnosed cases (50%), and a pathogenic somatic mutation resulted in 10% of the subjects. The high diagnostic yield reached highlights the relevance of the scientific approach, the importance of the reverse phenotyping strategy, and the involvement of a dedicated multidisciplinary team. The study emphasizes the role of recessive and somatic variants, new genetic mechanisms, and the complexity of genotype–phenotype associations. In older patients, WES results could end invasive diagnostic procedures and allow a more accurate transition. Finally, an early pursued diagnosis is essential for comprehensive care of patients, precision approach, knowledge of prognosis, patient and family planning, and quality of life.

Published
2022

6. Infant with a big head and ‘crossed’ polysyndactyly

Author

Gianluca Tamaro, Francesco Baldo, Beatrice Spedicati, Andrea Taddio, Flavio Faletra, Egidio Barbi, Tamaro, Gianluca, Baldo, Francesco, Spedicati, Beatrice, Taddio, Andrea, Faletra, Flavio, and Barbi, Egidio

Subjects
Greig cephalopolysyndactyly syndrome, crossed toe, Pediatrics, Perinatology and Child Health, Big head, polysyndactily
Abstract

N/A

Published
2022

7. Clinical and Cytometric Study of Immune Involvement in a Heterogeneous Cohort of Subjects With RASopathies and mTORopathies

Author

Erica Valencic, Prisca Da Lozzo, Gianluca Tornese, Elena Ghirigato, Francesco Facca, Elisa Piscianz, Flavio Faletra, Andrea Taddio, Alberto Tommasini, Andrea Magnolato, Valencic, Erica, Da Lozzo, Prisca, Tornese, Gianluca, Ghirigato, Elena, Facca, Francesco, Piscianz, Elisa, Faletra, Flavio, Taddio, Andrea, Tommasini, Alberto, and Magnolato, Andrea

Subjects
recent bone marrow emigrant, medicine.medical_specialty, Ras/MAPK, Population, recent bone marrow emigrants, Activated PI3K-delta syndrome, medicine.disease_cause, Pediatrics, RJ1-570, Immune system, immune dysregulation, Internal medicine, RASopathie, medicine, Neurofibromatosis, education, RASopathies, mTORopathies, flow cytometry, education.field_of_study, business.industry, Brief Research Report, Immune dysregulation, medicine.disease, Acquired immune system, mTORopathie, Pediatrics, Perinatology and Child Health, Cohort, Noonan syndrome, business
Abstract

RASopathies and mTORopathies are groups of genetic syndromes associated with increased activation of the RAS-MAPK or the PI3K-AKT-mTOR pathway, resulting in altered cell proliferation during embryonic and postnatal development. The RAS-MAPK and the PI3K-AKT-mTOR pathways are connected to each other and play a crucial role in adaptive immunity. However, with the exception of Activated PI3K delta syndrome (APDS), immune function has not been deeply studied in these disorders. We collected clinical and immunophenotypic data of a cohort of patients with RASopathies and mTORopathies. Overall, we enrolled 47 patients (22 females, 25 males, age 2–40 years): 33 with neurofibromatosis type 1, 11 Noonan syndrome and 3 Bannayan-Riley-Ruvalcaba syndrome. 8 patients reported a history of invasive infections requiring hospitalization and intravenous antibiotic therapy. Only 3 patients reported a history of unusual, difficult-to-treat or deep-seated infection. Adenotonsillectomy was performed in 11 patients (24%). However, in most cases (83%) patients' parents did not perceive their child as more prone to infections than their peers. Lymphocyte subpopulations were analyzed in 37 of the 47 patients (16 female, 21 males, age 1–40 years). Among the studied lymphocyte subsets, the only consistent alteration regarded an increased percentage of immature B cells (recent bone marrow emigrants) in 34 out of 37 (91,9%) patients, and an increased percentage of double negative T cells in 9 patients. In conclusion, although borderline immune abnormalities were present in a significant proportion of subjects and adenotonsillectomy was performed more frequently than expected for the general population, no major immune disturbance was found in this cohort of patients.

Published
2021

8. Incidence of Congenital Clubfoot: Preliminary Data from Italian CeDAP Registry

Author

Daniela Dibello, Lucio Torelli, Valentina Di Carlo, Adamo Pio d’Adamo, Flavio Faletra, Alessandro Mangogna, Giulia Colin, Dibello, Daniela, Torelli, Lucio, Di Carlo, Valentina, D’Adamo, Adamo Pio, Faletra, Flavio, Mangogna, Alessandro, and Colin, Giulia

Subjects
congenital talipes equinovaru, congenital malformation, Incidence, Health, Toxicology and Mutagenesis, Infant, Newborn, Public Health, Environmental and Occupational Health, clubfoot, Clubfoot, Italy, newborn, Pregnancy, Humans, epidemiology, Female, Registries, congenital talipes equinovarus, Preliminary Data, Retrospective Studies
Abstract

(1) Background: We find the incidence of clubfoot in Italy from “Certificate of Delivery Care Registry (CeDAP)”, a database of the Italian Ministry of Health, the most comprehensive public data available for this purpose. (2) Methods: The CeDAP registry is a web system that provides epidemiological and sociodemographic information about newborns. It started on 1 January 2002, following the ministerial Decree no. 349 of 16 July 2001. The certificate is structured into six sections; each collects specific information referring to the birthplace, parents, pregnancy, childbirth, newborn, and the possible presence of congenital malformations or the causes of neonatal mortality. The midwife or the doctor draws up the certificate no later than ten days after birth. Each region transmits the data every six months to the Ministry of Health. The period between 2013 and 2017 has been selected for the study, with every Italian region’s data. We conducted a retrospective descriptive study. (3) Results: The overall rate in northern Italy is 1.09 (with some exceptions described), but we think it is essential to reevaluate this number again, given more accurate data collections by every Italian hospital. (4) Conclusions: This study intends to build a framework for future epidemiologic studies about clubfoot in Italy.

Published
2022

9. A Child With Self-Improving Hypotonia: Look at the Skin!

Author

Anna Agrusti, Rosaura Conti, Flavio Faletra, Andrea Magnolato, Egidio Barbi, Irene Bruno, Marina Colombi, Ester Conversano, Conversano, Ester, Agrusti, Anna, Conti, Rosaura, Magnolato, Andrea, Bruno, Irene, Colombi, Marina, Barbi, Egidio, and Faletra, Flavio

Subjects
Pediatrics, medicine.medical_specialty, Muscle Hypotonia, Contusions, Kyphosis, Scoliosis, Consanguinity, Kyphosi, medicine, Ehlers-Danlos Syndrome, Humans, Infant, Mutation, Peptidylprolyl Isomerase, Peptidylprolyl isomerase, business.industry, Contusion, medicine.disease, Hypotonia, Ehlers–Danlos syndrome, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), medicine.symptom, business, Human
Abstract

N/A

Published
2020

10. Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism

Author

Flavio Faletra, Paolo Gasparini, Vanna Pecile, Maria Santa Rocca, Raffaella Devescovi, Rocca, Maria Santa, Faletra, Flavio, Devescovi, Raffaella, Gasparini, Paolo, and Pecile, Vanna

Subjects
Male, Muscle Hypotonia, Developmental Disabilitie, Developmental Disabilities, Cryptorchidism, Deletion 2p23, DTNB, SNP array, Child, Preschool, Comparative Genomic Hybridization, Facies, Humans, Infant, Phenotype, Polymorphism, Single Nucleotide, Chromosome Deletion, Chromosomes, Human, Pair 2, Genetics, Genetics (clinical), Biology, Chromosomes, Genetic, medicine, Polymorphism, Dysmorphic facial features, Child, Preschool, Gtg banding, Chromosome, Single Nucleotide, General Medicine, Facie, Hypotonia, Pair 2, Chromosomal region, medicine.symptom, Human, Comparative genomic hybridization
Abstract

Deletions of the short arm of chromosome 2 are exceedingly rare and only nine cases involving regions from 2p23 to 2pter have been reported to date. Most of these deletions had only been analysed by GTG banding. Here, we report an interstitial de novo deletion resulting in a microdeletion of 3.9 Mb involving 2p23.2-p23.3 segment, detected by SNP-array analysis, in a 5 year-old boy showing hypotonia, over- weight, dysmorphic facial features and cryptorchidism. We compared the clinical features of the present case to previously described patients with deletions within this chromosomal region. Our case adds new information to the deletion of the distal part of chromosome 2p improving the knowledge on this rearrangement.

Published
2013

11. Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature

Author

Vanna Pecile, Samuele Naviglio, Alessandro Mauro Spinelli, Andrea Pellegrin, Angela De Cunto, Stefania Cappellani, Flavio Faletra, Laura Travan, Travan, Laura, Naviglio, Samuele, DE CUNTO, Angela, Pellegrin, Andrea, Pecile, Vanna, Spinelli, Alessandro Mauro, Cappellani, Stefania, and Faletra, Flavio

Subjects
0301 basic medicine, medicine.medical_specialty, Microarray, 19q13.32, copy number variation, developmental delay, microdeletion, SNPs array, Genetics, Genetics (clinical), 03 medical and health sciences, Genetic, medicine, Copy-number variation, Kyphoscoliosis, NPAS1, business.industry, Buried penis, Microdeletion syndrome, medicine.disease, Phenotype, Dermatology, Hypotonia, 030104 developmental biology, medicine.symptom, business, human activities
Abstract

The phenotypic manifestations of microdeletions in the 19q13.32 region are still poorly known. In this paper we report a patient who presented with hypotonia, developmental delay, facial dysmorphism, micrognathia, kyphoscoliosis, and buried penis. Chromosomal microarray revealed an interstitial 327 kb de novo microdeletion in the 19q13.32 region comprising eight genes (ARGHAP35, NPAS1, TMEM160, ZC3H4, SAE1, BBC3, MIR3190, and MIR3191). Previously reported cases of microdeletions in the 19q13.32 region were reviewed and compared to our patient, highlighting the common features of a possible 19q13.32 microdeletion syndrome.

Published
2016

12. Contribution of SNP arrays in diagnosis of deletion 2p11.2–p12

Author

Paolo Gasparini, Antonella Fabretto, Vanna Pecile, Maria Santa Rocca, Aldo Skabar, Flavio Faletra, Ombretta Carlet, Rocca, Maria Santa, Fabretto, Antonella, Faletra, Flavio, Carlet, Ombretta, Skabar, Aldo, Gasparini, Paolo, and Pecile, Vanna

Subjects
LRRTM1, Biology, Polymorphism, Single Nucleotide, Microdeletion 2p11.2-p12, SNP array analysis, Intellectual Disability, Genetics, medicine, SNP array analysi, Humans, SNP, Abnormalities, Multiple, SPG31, Child, Snp array analysis, Gene, Oligonucleotide Array Sequence Analysis, Sequence Deletion, Chromosome, Karyotype, General Medicine, Chromosomes, Human, Pair 2, Speech delay, REEP1, Female, medicine.symptom, Haploinsufficiency
Abstract

Deletions of the short arm of chromosome 2 are exceedingly rare, having been reported in few patients. Fur- thermore most cases with deletion in 2p11.2–p12 have been studied using standard karyotype and so it is not possible to delineate the precise size of deletions. Here, we describe a 9-year-old girl with a 9.4 Mb de novo interstitial deletion of region 2p11.2–p12 identified by SNP array analysis. The deleted region encompasses over 40 known genes, including LRRTM1, CTNNA2 and REEP1, haploinsuffi- ciency of which could explain some clinical features of this patient such as mental retardation, speech delay and gait abnormalities. A comparison of our case with previously reported patients who present deletions in 2p11.2–p12 was carried out. Our case adds new information to the deletion of 2p11.2–p12, improving the knowledge on this rearrangement.

Published
2012

13. A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature

Author

Antonella Fabretto, Vanna Pecile, Paolo Gasparini, Flavio Faletra, Marco Carrozzi, Raffaella Devescovi, Faletra, Flavio, Devescovi, Raffaella, Pecile, Vanna, Fabretto, Antonella, Carrozzi, Marco, and Gasparini, Paolo

Subjects
Lissencephaly, Locus (genetics), Pervasive Developmental Disorder, Biology, Polymorphism, Single Nucleotide, PAFAH1B1, Autistic Spectrum Disorder, Gene Duplication, Gene duplication, Genetics, medicine, Humans, SNP, Child, Gene, YWHAE, Oligonucleotide Array Sequence Analysis, Single Nucleotide Polymorphism Array, Single Nucleotide Polymorphism Marker, General Medicine, Prognosis, medicine.disease, Human genetics, Autistic Spectrum Disorder, Single Nucleotide Polymorphism Marker, Pervasive Developmental Disorder, Single Nucleotide Polymorphism Array, Lissencephaly, Myelodysplastic Syndromes, 1-Alkyl-2-acetylglycerophosphocholine Esterase, Female, Microtubule-Associated Proteins
Abstract

The deletion of the locus 17p13 was associated with Miller–Dieker lissencephaly syndrome (MDLS). Deletion (Delatycki and Leventer 2009) or mutations (Lo Nigro et al. 1997) in the PAFAH1B1 (601545) gene cause lissencephaly (Gu and Lupski 2008), but facial dysmorphology and other abnormalities in patients with MDLS seem to be the result of the deletion of additional genes distal to PAFAH1B1 (Cardoso et al. 2003; Saillour et al. 2009). The gene responsible for the greater severity of MDLS compared to isolated lissencephaly is the YWHAE (Haverfield et al. 2009) (605066) gene, encoding 14-3-3-epsilon. It was very recently demonstrated that the duplication in 17p13 is a new clinical entity (OMIM 613215), characterized by mental retardation and other variable clinical and radiological findings (Roos et al. 2009; Spalice et al. 2009). There are three different areas within the MDS region containing dosage-sensitive genes. One containing the PAFAH1B1 gene and the other, more distal, which includes the TUSC5, YWHAE, CRK, and MYO1C genes. Until now, few cases have been described with duplication in the MDS region (Mei et al. 2008; Bi et al. 2009) and only two of them show a duplication including only the PAFAH1B1 area. All patients with duplication in the MDS region have common clinical and phenotypic features. Nevertheless, there are several important differences between those with only duplication in the PAFAH1B1 area as compared with those who have also (or only) a duplication in the distal area. Clinical report

Published
2010

14. Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype

Author

Silvia Giliani, Vassilios Lougaris, Anna Monica Bianco, Antonino Trizzino, Annalisa Marcuzzi, Fabio Facchetti, Daniele Moratto, Anders Fasth, Filippo Salvini, Erica Valencic, Manuela Baronio, Martina Girardelli, Alessandro Plebani, Elisa Piscianz, Gaetana Lanzi, Flavio Faletra, Alberto Tommasini, Diego Vozzi, Claudia Loganes, Lougaris, Vassilio, Faletra, Flavio, Lanzi, Gaetana, Vozzi, Diego, Marcuzzi, Annalisa, Valencic, Erica, Piscianz, Elisa, Bianco, ANNA MONICA ROSARIA, Girardelli, Martina, Baronio, Manuela, Loganes, Claudia, Fasth, Ander, Salvini, Filippo, Trizzino, Antonino, Moratto, Daniele, Facchetti, Fabio, Giliani, Silvia, Plebani, Alessandro, and Tommasini, Alberto

Subjects
Male, Hyper IgM syndrome, Hyper-IgM Immunodeficiency Syndrome, Immunology, Germinal Center (GC) reaction, Biology, medicine.disease_cause, NO, B cells, Hyper-IgM syndrome, PIK3R1, B-Lymphocytes, Child, Preschool, Female, Germinal Center, Humans, Infant, Mutation, Phenotype, Phosphatidylinositol 3-Kinases, RNA Splice Sites, Sequence Analysis, DNA, Immunology and Allergy, Child, Preschool, Sequence Analysis, DNA, medicine, B cell, B-Lymphocyte, Germinal center, medicine.disease, Peripheral, Class Ia Phosphatidylinositol 3-Kinase, medicine.anatomical_structure, RNA Splice Site, Phosphatidylinositol 3-Kinase, Human
Published
2015

15. Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results

Author

Annalisa Marcuzzi, Alessandra Knowles, Martina Girardelli, Alberto Tommasini, Flavio Faletra, Giorgio Zauli, Diego Vozzi, Anna Monica Bianco, Bianco, ANNA MONICA ROSARIA, Faletra, Flavio, Vozzi, Diego, Girardelli, Martina, Knowles, A, Tommasini, Alberto, Zauli, Giorgio, and Marcuzzi, Annalisa

Subjects
Male, Cancer Research, Gene mutation, Genotype-phenotype, Mevalonate, Mevalonate kinase deficiency, RAB40AL, Rare disease, Biochemistry, Genetics, Molecular Biology, Molecular Medicine, Oncology, Bioinformatics, medicine.disease_cause, mevalonate, X Chromosome Inactivation, Genotype, Databases, Genetic, Missense mutation, Exome, Child, Exome sequencing, Mutation, High-Throughput Nucleotide Sequencing, Genetic Diseases, X-Linked, Phosphotransferases (Alcohol Group Acceptor), Phenotype, Receptors, Androgen, Female, Genetic Markers, Hearing Loss, Sensorineural, Mutation, Missense, rare disease, Mevalonic Acid, Mothers, Biology, NO, Mitochondrial Proteins, Intellectual Disability, Genetic variation, medicine, Humans, Abnormalities, Multiple, Genetic Association Studies, Genetic Variation, medicine.disease, genotype‑phenotype, ras Proteins, mevalonate, rare disease, RAB40AL, mevalonate kinase deficiency, genotype‑phenotype, Mevalonate Kinase Deficiency
Abstract

Next-generation sequencing (NGS) has generated a large amount of sequence data with the requirement of frequent critical revisions of reported mutations. This innovative tool has proved to be effective in detecting pathogenic mutations; however, it requires a certain degree of experience to identify incidental findings. In the present study, whole exome sequencing analysis was performed for the molecular diagnosis and correct genotype/phenotype correlation between parents and a patient presenting with an atypical phenotype. In addition, mevalonic acid quantification and frequency analysis of detected variants in public databases and X‑chromosome inactivation (XCI) studies on the patient's mother were performed. V377I as well as the S135L mutations were identified on the mevalonate kinase deficiency gene and the levels of mevalonic acid in the patient were 5,496 µg/ml. A D59G variation, reported in ESP6500 in two healthy individuals, was found on the Martin Probst syndrome gene (RAB40AL). Based on XCI studies on the patient's mother, it is likely that RAB40AL escapes XCI, while still remaining balanced. In conclusion, the results of the present study indicated that the Martin Probst syndrome is an X‑linked condition, which is probably not caused by RAB40AL mutations. Although NGS is a powerful tool to identify pathogenic mutations, the analysis of genetic data requires expert critical revision of all detected variants.

Published
2014

16. Phylloid pattern of hypomelanosis closely related to chromosomal abnormalities in the 13q detected by SNP array analysis

Author

L. Cleva, Flavio Faletra, Alberto Tommasini, Vanna Pecile, Irene Berti, E. Alberini, Paolo Gasparini, Irene Bruno, Faletra, Flavio, Berti, I., Tommasini, A., Pecile, V., Cleva, L., Alberini, E., Bruno, I., and Gasparini, P.

Subjects
Male, Pathology, medicine.medical_specialty, 13q, Dermatology, Biology, Polymorphism, Single Nucleotide, Chromosomes, Phylloid hypomelanosi, Deletion, SNP array analysis, Gene duplication, medicine, SNP array analysi, Humans, Pair 13, Supernumerary, Polymorphism, Snp array analysis, Chromosome 13, Oligonucleotide Array Sequence Analysis, Genetics, Hypopigmentation, Chromosomes, Human, Pair 13, Oligonucleotide Array Sequence Analysi, Mosaicism, Phylloid hypomelanosis, 2708, Single Nucleotide, medicine.disease, Human
Abstract

Phylloid hypomelanosis is a distinct type of pigmentary mosaicism characterized by congenital hypochromic macules resembling a floral ornament with various elements such as round or oval patches, asymmetrical macules similar to begonia leaves, or oblong lesions. It has been found to be predominantly associated with abnormalities in chromosome 13 and sometimes as-sociated with different extracutaneous abnormalities. Here, we report 2 new cases of phylloid hypomelanosis due to mosaicism involving chromosome 13. The first one is a mosaicism for a supernumerary marker belonging to chromosome 13 and the second one is the first report of phylloid hypomelanosis associated with a mosaic deletion of 13q. Because of the extremely low level of mosaicism in these 2 cases, SNP array analysis on skin fibroblasts was carried out, showing a 13q21.33-q34 duplication (71,024,411-115,103,529) and a 13q13.3-q34 (38,368,012-115,103,529) deletion. Both cases underline on the one hand the strict connection between phylloid hypomelanosis and anomalies of chromosome 13, and on the other hand the relevance of the SNP array analysis on skin fibroblasts in the detection of low-level mosaicism.

Published
2012

17. A Brain and Heart Connection: X-Linked Periventricular Heterotopia

Author

Caterina Zanus, Flavio Faletra, Irene Bruno, Alessandro Ventura, Samuele Naviglio, Naviglio, Samuele, Bruno, Irene, Zanus, Caterina, Faletra, Flavio, and Ventura, Alessandro

Subjects
Epilepsy, Adolescent, business.industry, x-linked periventricular heterotopia, Filamins, DNA Mutational Analysis, Brain, Anatomy, Magnetic Resonance Imaging, Diagnosis, Differential, Periventricular Nodular Heterotopia, Mutation, Pediatrics, Perinatology and Child Health, Nodular heterotopia, Humans, Medicine, Female, Connection (algebraic framework), business
Abstract

N/A

Published
2015

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