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

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Date

2009-10

Authors

Çoker, Ajda
Çetinkaya, Ergun
Dündar, Bumin
Şıklar, Zeynep
Büyükgebiz, Atilla
Arman, Ahmet

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FREUND PUBLISHING HOUSE LTD, PO BOX 35010, TEL AVIV 61350, ISRAEL

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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.

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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

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