title: Novel growth hormone-releasing hormone receptor gene mutations in Turkish children with isolated growth hormone deficiency.
abstract: OBJECTIVE
  Isolated growth hormone deficiency (IGHD) is defined as a medical condition associated with growth failure due to insufficient production of GH or lack of GH action. Mutations in the gene encoding for GH-releasing hormone receptor (GHRHR) have been detected in patients with IGHD type IB. However, genetic defects on GHRHR causing IGHD in the Turkish population have not yet been reported. To identify mutations on GHRHR gene in a population of Turkish children with IGHD.
  
  
  METHODS
  Ninety-six Turkish children with IGHD were included in this study. Exon1-13 and exon/intron boundaries of GHRHR were amplified by suitable primers. The polymerase chain reaction products for GHRHR gene were sequenced with primers.
  
  
  RESULTS
  We analyzed the GHRHR gene for mutations in ninety-six patients with IGHD based on sequence results. We identified novel p.K264E, p.S317T, p.S330L, p.G369V, p.T257A and C base insertion on position 380 (c.380inserC) mutations. In 5 of the patients, the mutation was homozygote and in 1-heterozygote (p.S317T).
  
  
  CONCLUSIONS
  Six new missense mutations and one first case of insertion mutations for the GHRHR gene are reported.
authors.affiliation: Marmara University Faculty of Medicine, Department of Medical Genetics, İstanbul, Turkey. E-ma-il: ahmetarman@marmara.edu.tr.
authors.forename: Ahmet
authors.initials: A
authors.lastname: Arman
authors.forename: Bumin Nuri
authors.initials: BN
authors.lastname: Dündar
authors.forename: Ergun
authors.initials: E
authors.lastname: Çetinkaya
authors.forename: Nilüfer
authors.initials: N
authors.lastname: Erzaim
authors.forename: Atilla
authors.initials: A
authors.lastname: Büyükgebiz
mesh_terms: D002648:Child; D004393:Dwarfism, Pituitary / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D016254:Mutagenesis, Insertional; D020125:Mutation, Missense; D018013:Receptors, Neuropeptide / Q000235:genetics*; D018017:Receptors, Pituitary Hormone-Regulating Hormone / Q000235:genetics*; D014421:Turkey
chemical_list: D018013:Receptors, Neuropeptide; D018017:Receptors, Pituitary Hormone-Regulating Hormone; C048250:somatotropin releasing hormone receptor