title: A nonsense mutation (E72X) in growth hormone releasing hormone receptor (GHRHR) gene is the major cause of familial isolated growth hormone deficiency in Western region of India: founder effect suggested by analysis of dinucleotide repeat polymorphism close to GHRHR gene.
abstract: An identical nonsense mutation (E72X) in growth hormone releasing hormone receptor (GHRHR) gene was identified in 17 patients with isolated GH deficiency belonging to one Muslim and four Hindu families residing in the Western part of India. Analysis of two dinucleotide repeat polymorphism, one at 6 kb downstream and the other at 13 kb downstream of GHRHR gene, revealed that all the patients shared the same homozygotic alleles at both loci. These results strongly indicate that the nonsense mutation occurred in a single ancestor and was subsequently transmitted to the descendants. This GHRHR mutation may be an important cause of familial IGHD in Western India and Sindh area of Pakistan as previous studies have also reported the same mutation.
authors.affiliation: Department of Pediatrics, Kamiida Daiichi General Hospital, Nagoya, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Kamijo
authors.forename: Yoshitaka
authors.initials: Y
authors.lastname: Hayashi
authors.forename: Hisao
authors.initials: H
authors.lastname: Seo
authors.forename: Michiyo
authors.initials: M
authors.lastname: Yamamoto
authors.forename: Masamichi
authors.initials: M
authors.lastname: Ogawa
authors.forename: Chandra S
authors.initials: CS
authors.lastname: Choski
authors.forename: Nitin J
authors.initials: NJ
authors.lastname: Sawant
authors.forename: Marie P
authors.initials: MP
authors.lastname: Colaco
authors.forename: Meena P
authors.initials: MP
authors.lastname: Desai
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D018389:Codon, Nonsense; D018900:Dinucleotide Repeats / Q000502:physiology*; D018703:Founder Effect; D019382:Human Growth Hormone / Q000172:deficiency*; D006801:Humans; D007194:India; D008969:Molecular Sequence Data; D010375:Pedigree; D011110:Polymorphism, Genetic; D018013:Receptors, Neuropeptide / Q000235:genetics*; D018017:Receptors, Pituitary Hormone-Regulating Hormone / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D018013:Receptors, Neuropeptide; D018017:Receptors, Pituitary Hormone-Regulating Hormone; D019382:Human Growth Hormone; C048250:somatotropin releasing hormone receptor