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., ...Daha Fazla

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.11, sa.4, ss.341-349, 2019 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 11 Sayı: 4
  • Basım Tarihi: 2019
  • Doi Numarası: 10.4274/jcrpe.galenos.2019.2019.0021
  • Dergi Adı: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.341-349
  • Anahtar Kelimeler: 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 Uludağ Üniversitesi Adresli: Evet

Özet

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.