دورية أكاديمية
أعرض في EDS

Exome sequencing in children with clinically suspected maturity-onset diabetes of the young.

التفاصيل البيبلوغرافية
العنوان: Exome sequencing in children with clinically suspected maturity-onset diabetes of the young.
المؤلفون: Tosur M; Department of Pediatrics, The Section of Diabetes and Endocrinology, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas, USA., Soler-Alfonso C; Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas, USA., Chan KM; Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas, USA., Khayat MM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Meng Q; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Refaey A; Department of Biology and Biochemistry, University of Houston, Houston, Texas, USA., Muzny D; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Murdock DR; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Balasubramanyam A; Division of Diabetes, Endocrinology and Metabolism, Baylor College of Medicine, Houston, Texas, USA., Redondo MJ; Department of Pediatrics, The Section of Diabetes and Endocrinology, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas, USA., Sabo A; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
المصدر: Pediatric diabetes [Pediatr Diabetes] 2021 Nov; Vol. 22 (7), pp. 960-968. Date of Electronic Publication: 2021 Aug 19.
نوع المنشور: Case Reports; Journal Article; Research Support, N.I.H., Extramural
اللغة: English
بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 100939345 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-5448 (Electronic) Linking ISSN: 1399543X NLM ISO Abbreviation: Pediatr Diabetes Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Copenhagen : Munksgaard, c2000-
مواضيع طبية MeSH: Exome Sequencing*, Diabetes Mellitus, Type 2/*genetics, Adolescent ; Autoantibodies/blood ; Child ; Diabetes Mellitus, Type 1 ; Diagnosis, Differential ; Female ; Frameshift Mutation/genetics ; Genetic Variation ; Humans ; Islets of Langerhans/immunology ; Male ; Mutation, Missense/genetics ; Pedigree
مستخلص: Objective: Commercial gene panels identify pathogenic variants in as low as 27% of patients suspected to have MODY, suggesting the role of yet unidentified pathogenic variants. We sought to identify novel gene variants associated with MODY.
Research Design and Methods: We recruited 10 children with a clinical suspicion of MODY but non-diagnostic commercial MODY gene panels. We performed exome sequencing (ES) in them and their parents.
Results: Mean age at diabetes diagnosis was 10 (± 3.8) years. Six were females; 4 were non-Hispanic white, 5 Hispanic, and 1 Asian. Our variant prioritization analysis identified a pathogenic, de novo variant in INS (c.94G > A, p.Gly32Ser), confirmed by Sanger sequencing, in a proband who was previously diagnosed with "autoantibody-negative type 1 diabetes (T1D)" at 3 y/o. This rare variant, absent in the general population (gnomAD database), has been reported previously in neonatal diabetes. We also identified a frameshift deletion (c.2650delC, p.Gln884AsnfsTer57) in RFX6 in a child with a previous diagnosis of "autoantibody-negative T1D" at 12 y/o. The variant was inherited from the mother, who was diagnosed with "thin type 2 diabetes" at 25 y/o. Heterozygous protein-truncating variants in RFX6 gene have been recently reported in individuals with MODY.
Conclusions: We diagnosed two patients with MODY using ES in children initially classified as "T1D". One has a likely pathogenic novel gene variant not previously associated with MODY. We demonstrate the clinical utility of ES in patients with clinical suspicion of MODY.
(© 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
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معلومات مُعتمدة: K08 HG008986 United States HG NHGRI NIH HHS; R01 DK124395 United States DK NIDDK NIH HHS; UM1 HG008898 United States HG NHGRI NIH HHS
فهرسة مساهمة: Keywords: MODY; children; diabetes; exome sequencing; maturity onset diabetes of the young
المشرفين على المادة: 0 (Autoantibodies)
تواريخ الأحداث: Date Created: 20210813 Date Completed: 20220203 Latest Revision: 20240615
رمز التحديث: 20240615
مُعرف محوري في PubMed: PMC8530905
DOI: 10.1111/pedi.13257
PMID: 34387403
قاعدة البيانات: MEDLINE
الوصف
تدمد:1399-5448
DOI:10.1111/pedi.13257