title: A novel mutation at the donor splice site of intron 3 of the GH-I gene in a patient with isolated growth hormone deficiency.
abstract: A G - C transversion at the fifth nucleotide of intron 3 of GH-I gene was identified in a sporadic case of isolated growth hormone deficiency (IGHD). The mutation was absent in both of the parents, indicating that the mutation occurred de novo. An abnormal hGH mRNA lacking a region encoded by exon 3 was spliced when the mutant GH-I gene was expressed in cultured cells. Since skipping of exon 3 is a common feature for four different mutant GH-I genes identified in patients with autosomal dominantly inherited IGHD, we conclude that the mutation causes IGHD in this case.
authors.affiliation: Department of Endocrinology and Metabolism, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan. hayashiy@endeavor.riem.nagoya-u.ac.jp
authors.forename: Y
authors.initials: Y
authors.lastname: Hayashi
authors.forename: T
authors.initials: T
authors.lastname: Kamijo
authors.forename: M
authors.initials: M
authors.lastname: Yamamoto
authors.forename: S
authors.initials: S
authors.lastname: Ohmori
authors.forename: J A
authors.initials: JA
authors.lastname: Phillips
authors.forename: M
authors.initials: M
authors.lastname: Ogawa
authors.forename: Y
authors.initials: Y
authors.lastname: Igarashi
authors.forename: H
authors.initials: H
authors.lastname: Seo
mesh_terms: D002460:Cell Line; D004252:DNA Mutational Analysis; D006128:Growth / Q000235:genetics; D013006:Growth Hormone / Q000172:deficiency* / Q000235:genetics*; D006801:Humans; D007223:Infant; D007438:Introns / Q000235:genetics; D007962:Leukocytes; D008297:Male; D009154:Mutation; D012150:Polymorphism, Restriction Fragment Length; D012333:RNA, Messenger / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014162:Transfection
chemical_list: D012333:RNA, Messenger; D013006:Growth Hormone