Publication:
Characterization of GH-1 Mutations in Children with Isolated Growth Hormone Deficiency in the Turkish Population

No Thumbnail Available
Date
2009-10
Authors
Çoker, Ajda
Çetinkaya, Ergun
Dündar, Bumin
Şıklar, Zeynep
Büyükgebiz, Atilla
Arman, Ahmet
Journal Title
Journal ISSN
Volume Title
Publisher
FREUND PUBLISHING HOUSE LTD, PO BOX 35010, TEL AVIV 61350, ISRAEL
Research Projects
Organizational Units
Journal Issue
Abstract

Isolated growth hormone deficiency (IGHD) is defined as a medical condition associated with growth failure due to insufficient production of growth hormone (GH) or lack of growth hormone action. It occurs with an incidence of between 1/4,000 and 1/10,000 live births. Most cases are sporadic and idiopathic but 5-30% of growth hormone deficiency (GHD) has genetic etiology. Mutations in the GH encoding gene (GH-1) have been detected in patients with IGHD. The purpose of this study was to characterize mutations of the GH-1 gene in children with IGHD in the Turkish population. We found four missense mutations (E33G, N47D, T-24A and A13S), one nonsense mutation (W-7X), one insertion and two deletions in nine patients out of seventy-five patients with IGHD. The missense mutation A13S, GAAA insertion at intron 1 (+178A), and the deletions of +83C in intron I and Delta F166 in exon 5 are novel mutations.

Description
Keywords
isolated growth hormone deficiency , GH-1 gene , mutation analysis , gene deletions , short stature , prevalence , secretion , defects , izole büyüme hormonu eksikliği , mutasyon analizi , gen silmeler , boy kısalığı , yaygınlık , salgı , kusurlar
Citation