A novel mutation at the donor splice site of intron 3 of the GH-1 gene in a patient with isolated growth hormone deficiency

A G - C transversion at the fifth nucleotide of intron 3 of GH-I gene was i dentified in a sporadic case of isolated growth hormone deficiency (IGHD). The mutation was absent in both of the parents, indicating that the mutatio n 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. Sin ce skipping of exon 3 is a common feature for four different mutant GH-I ge nes identified in patients with autosomal dominantly inherited IGHD, we con clude that the mutation causes IGHD in this case. (C) 1999 Harcourt Publish ers Ltd.