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

@article{Katsumata2001ANA,
  title={A novel and de novo splice-donor site mutation in intron 3 of the GH-1 gene in a patient with isolated growth hormone deficiency.},
  author={Noriyuki Katsumata and Susumu Matsuo and Nobuyuki Sato and Takehiko Tanaka},
  journal={Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society},
  year={2001},
  volume={11 6},
  pages={378-83}
}
Heterozygous mutations at the splice-donor site of inron 3 of the GH-1 gene are known to affect growth hormone (GH) mRNA splicing and cause isolated GH deficiency (IGHD), which is inherited in an autosomal dominant trait. We report here a novel and de novo heterozygous IVS3 + 6T --> G mutation of the GH-1 gene in a Japanese patient with IGHD. RT-PCR analyses of the GH-1 minigene transcripts demonstrated that the IVS3 + 6T --> G mutation causes complete skipping of exon 3. We found a… CONTINUE READING