title: Hereditary isolated growth hormone deficiency caused by GH1 gene mutations in Japanese patients.
abstract: Most patients with hereditary isolated growth hormone deficiency (IGHD) are either heterozygous or homozygous for a growth hormone (GH) gene abnormality. GH1 gene deletions (6.7 and 7.6 kb) from eight Japanese families with IGHD type IA has been detected by Southern blot analysis or polymerase chain reaction and Smal digestion. Heterozygous point mutations at the donor splice site of intron 3 in the GH1 gene have been identified among autosomal dominant IGHD type II patients. Recently, we have identified two kinds of splicing mutations in intron 3 in four Japanese families with IGHD type II. We believe a newly diagnosed G to A mutation at the fifth base of intron 3 in a Japanese family is responsible for the IGHD type II phenotype.
authors.affiliation: Department of Pediatrics, Kamiida Daiichi General Hospital, Nagoya, Japan. kamijyo@magical3.egg.or.jp
authors.forename: T
authors.initials: T
authors.lastname: Kamijo
authors.forename: Y
authors.initials: Y
authors.lastname: Hayashi
authors.forename: H
authors.initials: H
authors.lastname: Seo
authors.forename: M
authors.initials: M
authors.lastname: Ogawa
mesh_terms: D001483:Base Sequence; D004247:DNA / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D008040:Genetic Linkage; D006579:Heterozygote; D006720:Homozygote; D019382:Human Growth Hormone / Q000172:deficiency* / Q000235:genetics*; D006801:Humans; D007564:Japan; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D012326:RNA Splicing / Q000235:genetics; D014960:X Chromosome / Q000235:genetics
chemical_list: D019382:Human Growth Hormone; D004247:DNA