A Japanese family with autosomal dominant growth hormone deficiency

We report a 1-year-old Japanese boy and his father with isolated growth hor mone deficiency II. In both cases, a G --> A transition of the first base o f the donor splice site of intron 3 of the growth hormone-1 gene was detect ed. All unaffected family members were homozygous normal. Conclusion This is the fourth reported case of autosomal isolated growth ho rmone deficiency II with a G --> A transition. The CG dinucleotide at the e xon 3-intron 3 junction of the growth hormone-1 gene appears to be a hot sp ot for point mutations.