Molecular diagnosis of maturity-onset diabetes of the young (MODY) in Turkish children by using targeted next-generation sequencing


Anik A., Catli G., ABACI A., Sari E., Yesilkaya E., Korkmaz H. A., ...More

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.28, no.11-12, pp.1265-1271, 2015 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 28 Issue: 11-12
  • Publication Date: 2015
  • Doi Number: 10.1515/jpem-2014-0430
  • Journal Name: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1265-1271
  • Keywords: childhood, MODY, next-generation sequencing, CLINICAL CHARACTERISTICS, GLUCOKINASE MUTATIONS, GENE, MELLITUS, GCK, ADOLESCENTS, HNF-1-ALPHA, TYPE-2, HNF1A, HYPERGLYCEMIA
  • Akdeniz University Affiliated: No

Abstract

Aim: To perform molecular analysis of pediatric maturity onset diabetes of the young (MODY) patients by next-generation sequencing, which enables simultaneous analysis of multiple genes in a single test, to determine the genetic etiology of a group of Turkish children clinically diagnosed as MODY, and to assess genotype-phenotype relationship.