دورية أكاديمية
أعرض في EDS

Targeted sequencing identifies novel variants in common and rare MODY genes.

التفاصيل البيبلوغرافية
العنوان: Targeted sequencing identifies novel variants in common and rare MODY genes.
المؤلفون: de Santana LS; Monogenic Diabetes Group, Genetic Endocrinology Unit and Laboratory of Molecular & Cellular Endocrinology/LIM25, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil., Caetano LA; Monogenic Diabetes Group, Genetic Endocrinology Unit and Laboratory of Molecular & Cellular Endocrinology/LIM25, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil.; Diabetes Unit, Clinics Hospital, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil., Costa-Riquetto AD; Monogenic Diabetes Group, Genetic Endocrinology Unit and Laboratory of Molecular & Cellular Endocrinology/LIM25, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil.; Diabetes Unit, Clinics Hospital, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil., Franco PC; Monogenic Diabetes Group, Genetic Endocrinology Unit and Laboratory of Molecular & Cellular Endocrinology/LIM25, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil.; Diabetes Unit, Clinics Hospital, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil., Dotto RP; Departamento de Medicina, Disciplina de Endocrinologia, Universidade Federal de São Paulo (UNIFESP), Sao Paulo, SP, Brazil., Reis AF; Departamento de Medicina, Disciplina de Endocrinologia, Universidade Federal de São Paulo (UNIFESP), Sao Paulo, SP, Brazil., Weinert LS; Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil., Silveiro SP; Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil., Vendramini MF; Serviço de Endocrinologia, Hospital do Servidor Público Estadual de São Paulo (HSPE-SP), Sao Paulo, SP, Brazil., do Prado FA; Hospital Regional de Taguatinga da Secretaria de Saúde do Distrito Federal, Taguatinga, DF, Brazil., Abrahão GCP; Pontifícia Universidade Católica de São Paulo (PUCSP), Sao Paulo, SP, Brazil., de Almeida AGFP; Instituto Federal de Educação, Ciência e Tecnologia do Maranhão (IFMA), Sao Luis, MA, Brazil., Tavares MDGR; Serviço de Endocrinologia do Hospital Universitário, Universidade Federal do Maranhão (UFMA), Sao Luis, MA, Brazil., Gonçalves WRB; Hospital do Servidor Público Municipal de São Paulo (HSPM-SP), Sao Paulo, SP, Brazil., Santomauro Junior AC; Serviço de Endocrinologia Prof. Dr. Fadlo Fraige Filho, Hospital Beneficência Portuguesa de São Paulo (BP-SP), Sao Paulo, SP, Brazil., Halpern B; Departamento de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (USP), Sao Paulo, SP, Brazil., Jorge AAL; Monogenic Diabetes Group, Genetic Endocrinology Unit and Laboratory of Molecular & Cellular Endocrinology/LIM25, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil., Nery M; Diabetes Unit, Clinics Hospital, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil., Teles MG; Monogenic Diabetes Group, Genetic Endocrinology Unit and Laboratory of Molecular & Cellular Endocrinology/LIM25, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil.; Diabetes Unit, Clinics Hospital, School of Medicine, University of Sao Paulo (USP), Sao Paulo, SP, Brazil.
المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Dec; Vol. 7 (12), pp. e962. Date of Electronic Publication: 2019 Oct 08.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE
أسماء مطبوعة: Original Publication: [Hoboken, NJ] : John Wiley & Sons, [2013]-
مواضيع طبية MeSH: Diabetes Mellitus, Type 2/*genetics , Genetic Testing/*methods , High-Throughput Nucleotide Sequencing/*methods, Adolescent ; Adult ; Basic Helix-Loop-Helix Transcription Factors/genetics ; Brazil ; Cohort Studies ; Female ; Genetic Predisposition to Disease ; Homeodomain Proteins/genetics ; Humans ; Male ; Sequence Analysis, DNA ; Sulfonylurea Receptors/genetics ; Trans-Activators/genetics ; Young Adult
مستخلص: Background: Maturity-onset diabetes of the young (MODY) is a form of monogenic diabetes with autosomal dominant inheritance. To date, mutations in 11 genes have been frequently associated with this phenotype. In Brazil, few cohorts have been screened for MODY, all using a candidate gene approach, with a high prevalence of undiagnosed cases (MODY-X).
Methods: We conducted a next-generation sequencing target panel (tNGS) study to investigate, for the first time, a Brazilian cohort of MODY patients with a negative prior genetic analysis. One hundred and two patients were selected, of which 26 had an initial clinical suspicion of MODY-GCK and 76 were non-GCK MODY.
Results: After excluding all benign and likely benign variants and variants of uncertain significance, we were able to assign a genetic cause for 12.7% (13/102) of the probands. Three rare MODY subtypes were identified (PDX1/NEUROD1/ABCC8), and eight variants had not been previously described/mapped in genomic databases. Important clinical findings were evidenced in some cases after genetic diagnosis, such as MODY-PDX1/HNF1B.
Conclusion: A multiloci genetic approach allowed the identification of rare MODY subtypes, reducing the large percentage of MODY-X in Brazilian cases and contributing to a better clinical, therapeutic, and prognostic characterization of these rare phenotypes.
(© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.)
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فهرسة مساهمة: Keywords: ACMG/AMP; MODY; MODY-X; targeted sequencing
المشرفين على المادة: 0 (ABCC8 protein, human)
0 (Basic Helix-Loop-Helix Transcription Factors)
0 (Homeodomain Proteins)
0 (NEUROD1 protein, human)
0 (Sulfonylurea Receptors)
0 (Trans-Activators)
0 (pancreatic and duodenal homeobox 1 protein)
SCR Disease Name: Mason-Type Diabetes
تواريخ الأحداث: Date Created: 20191010 Date Completed: 20200619 Latest Revision: 20231020
رمز التحديث: 20231020
مُعرف محوري في PubMed: PMC6900361
DOI: 10.1002/mgg3.962
PMID: 31595705
قاعدة البيانات: MEDLINE
الوصف
تدمد:2324-9269
DOI:10.1002/mgg3.962