Novel Mutations in Obesity-related Genes in Turkish Children with Non-syndromic Early Onset Severe Obesity: A Multicentre Study

AKINCI A., Turkkahraman D., TEKEDERELİ İ., Ozer L., EVREN B., ŞAHİN İ., ...More

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, vol.11, no.4, pp.341-349, 2019 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 11 Issue: 4
  • Publication Date: 2019
  • Doi Number: 10.4274/jcrpe.galenos.2019.2019.0021
  • Journal Name: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.341-349
  • Keywords: Early, onset, severe obesity, novel mutations, MELANOCORTIN-4 RECEPTOR MUTATIONS, HOMOZYGOUS MISSENSE MUTATION, CELL-SURFACE EXPRESSION, SIM1 GENE, PROOPIOMELANOCORTIN POMC, STABILITY CHANGES, DEFICIENCY, VARIANTS, PROTEIN, MC4R
  • Bursa Uludag University Affiliated: Yes

Abstract

Objective: Non syndromic monogenic obesity is a rare cause of early onset severe obesity in the childhood period. This form may not be distinguishable from other forms of severe obesity without genetic analysis, particularly if patients do not exibit any physical abnormalities or developmental delay. The aim of this study was to screen 41 different obesity-related genes in children with nonsyndromic early onset severe obesity.