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Identifying Pathogenic Variants of Monogenic Diabetes Using Targeted Panel Sequencing in an East Asian Population.
Park, Seung Shin; Jang, Se Song; Ahn, Chang Ho; Kim, Jung Hee; Jung, Hye Seung; Cho, Young Min; Lee, Young Ah; Shin, Choong Ho; Chae, Jong Hee; Kim, Jae Hyun; Choi, Sung Hee; Jang, Hak C; Bae, Jee Cheol; Won, Jong Cheol; Kim, Sung-Hoon; Kim, Jong-Il; Kwak, Soo Heon; Park, Kyong Soo.
Afiliação
  • Park SS; Department of Internal Medicine, Seoul National University Hospital, Seoul, Republic of Korea.
  • Jang SS; Department of Biomedical Sciences, Seoul National University Graduate School, Seoul, Republic of Korea.
  • Ahn CH; Department of Internal Medicine, Seoul National University Hospital, Seoul, Republic of Korea.
  • Kim JH; Department of Internal Medicine, Seoul National University Hospital, Seoul, Republic of Korea.
  • Jung HS; Department of Internal Medicine, Seoul National University Hospital, Seoul, Republic of Korea.
  • Cho YM; Department of Internal Medicine, Seoul National University Hospital, Seoul, Republic of Korea.
  • Lee YA; Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea.
  • Shin CH; Department of Pediatrics, Seoul National University Hospital, Seoul, Republic of Korea.
  • Chae JH; Department of Pediatrics, Seoul National University Hospital, Seoul, Republic of Korea.
  • Kim JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.
  • Choi SH; Department of Pediatrics, Seoul National University Hospital, Seoul, Republic of Korea.
  • Jang HC; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.
  • Bae JC; Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam, Republic of Korea.
  • Won JC; Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea.
  • Kim SH; Department of Internal Medicine, Seoul National University Bundang Hospital, Seongnam, Republic of Korea.
  • Kim JI; Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea.
  • Kwak SH; Department of Internal Medicine, Seoul National University Bundang Hospital, Seongnam, Republic of Korea.
  • Park KS; Department of Internal Medicine, Samsung Changwon Hospital, Changwon, Republic of Korea.
J Clin Endocrinol Metab ; 104(9): 4188-4198, 2019 Sep 01.
Article em En | MEDLINE | ID: mdl-30977832
PURPOSE: Monogenic diabetes is a specific type of diabetes in which precision medicine could be applied. In this study, we used targeted panel sequencing to investigate pathogenic variants in Korean patients with clinically suspected monogenic diabetes. METHODS: The eligibility criteria for inclusion were patients with nontype 1 diabetes with age at onset ≤30 years and body mass index (BMI) ≤30 kg/m2. Among the 2090 patients with nontype 1 diabetes, 109 had suspected monogenic diabetes and underwent genetic testing. We analyzed 30 monogenic diabetes genes using targeted panel sequencing. The pathogenicity of the genetic variants was evaluated according to the American College of Medical Genetics and Genomics and Association for Molecular Pathology guidelines. RESULTS: Among the 109 patients with suspected monogenic diabetes, 23 patients (21.1%) harbored pathogenic/likely pathogenic variants. A total of 14 pathogenic/likely pathogenic variants of common maturity-onset diabetes of the young (MODY) genes were identified in GCK, HNF1A, HNF4A, and HNF1B. Other pathogenic/likely pathogenic variants were identified in WFS1, INS, ABCC8, and FOXP3. The mitochondrial DNA 3243A>G variant was identified in five participants. Patients with pathogenic/likely pathogenic variants had a significantly higher MODY probability, a lower BMI, and a lower C-peptide level than those without pathogenic/likely pathogenic variants (P = 0.007, P = 0.001, and P = 0.012, respectively). CONCLUSIONS: Using targeted panel sequencing followed by pathogenicity evaluation, we were able to make molecular genetic diagnoses for 23 patients (21.1%) with suspected monogenic diabetes. Lower BMI, higher MODY probability, and lower C-peptide level were characteristics of these participants.

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Guideline / Prognostic_studies Idioma: En Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Guideline / Prognostic_studies Idioma: En Ano de publicação: 2019 Tipo de documento: Article