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

Thumbnail
Author
Çoker, Ajda
Çetinkaya, Ergun
Dündar, Bumin
Şıklar, Zeynep
Büyükgebiz, Atilla
Arman, Ahmet
Type
Article
Date
2009-10
Language
en_US
Metadata
Show full item record
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.
Subject
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
URI
http://hdl.handle.net/11413/1228
Collections
  • Makaleler / Articles [140]
  • Pubmed Publications [149]
  • Scopus Publications [724]
  • WoS Publications [1016]

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İstanbul Kültür University

Hakkında |Politika | Kütüphane | İletişim | Send Feedback | Admin

Istanbul Kültür University, Ataköy Campus E5 Karayolu Üzeri Bakırköy 34158, İstanbul / TURKEY
Copyright © İstanbul Kültür University

Creative Commons Lisansı
IKU Institutional Repository, Creative Commons Alıntı-GayriTicari-Türetilemez 4.0 Uluslararası Lisansı ile lisanslanmıştır.

Designed by  UNIREPOS