title: A Japanese family with autosomal dominant growth hormone deficiency.
abstract: We report a 1-year-old Japanese boy and his father with isolated growth hormone deficiency II. In both cases, a G-->A transition of the first base of the donor splice site of intron 3 of the growth hormone-1 gene was detected. All unaffected family members were homozygous normal.
  
  
  CONCLUSIONS
  This is the fourth reported case of autosomal isolated growth hormone deficiency II with a G-->A transition. The CG dinucleotide at the exon 3-intron 3 junction of the growth hormone-1 gene appears to be a hot spot for point mutations.
authors.affiliation: Department of Paediatrics, Ibaraki Seinan Medical Center Hospital, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Saitoh
authors.forename: T
authors.initials: T
authors.lastname: Fukushima
authors.forename: T
authors.initials: T
authors.lastname: Kamoda
authors.forename: A
authors.initials: A
authors.lastname: Tanae
authors.forename: T
authors.initials: T
authors.lastname: Kamijo
authors.forename: M
authors.initials: M
authors.lastname: Yamamoto
authors.forename: M
authors.initials: M
authors.lastname: Ogawa
authors.forename: Y
authors.initials: Y
authors.lastname: Hayashi
authors.forename: S
authors.initials: S
authors.lastname: Ohmori
authors.forename: H
authors.initials: H
authors.lastname: Seo
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D006130:Growth Disorders / Q000208:ethnology / Q000235:genetics*; D013006:Growth Hormone / Q000172:deficiency* / Q000235:genetics*; D006801:Humans; D007223:Infant; D007564:Japan; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping; D017422:Sequence Analysis, DNA
chemical_list: D013006:Growth Hormone