A Japanese family with autosomal dominant growth hormone deficiency.
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.
Saitoh
H
H
Department of Paediatrics, Ibaraki Seinan Medical Center Hospital, Japan.
Fukushima
T
T
Kamoda
T
T
Tanae
A
A
Kamijo
T
T
Yamamoto
M
M
Ogawa
M
M
Hayashi
Y
Y
Ohmori
S
S
Seo
H
H
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
D013006:Growth Hormone