title: Characterization of GH-1 mutations in children with isolated growth hormone deficiency in the Turkish population.
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 1 and deltaF166 in exon 5 are novel mutations.
authors.affiliation: Department of Molecular Biology and Genetics, Istanbul Kultur University, Istanbul.
authors.forename: Ajda
authors.initials: A
authors.lastname: Coker
authors.forename: Ergun
authors.initials: E
authors.lastname: Cetinkaya
authors.forename: Bumin
authors.initials: B
authors.lastname: Dundar
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Siklar
authors.forename: Atilla
authors.initials: A
authors.lastname: Buyukgebiz
authors.forename: Ahmet
authors.initials: A
authors.lastname: Arman
mesh_terms: D002648:Child; D002675:Child, Preschool; D018389:Codon, Nonsense; D005260:Female; D019382:Human Growth Hormone / Q000172:deficiency* / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D014421:Turkey
chemical_list: D018389:Codon, Nonsense; D019382:Human Growth Hormone