Abstract
Seventy-three Italian patients affected by steroid 21-hydroxylase deficiency were studied by a PCR –allele-specific oligonucleotide protocol in order to evaluate the presence of eight known point mutations. The majority of chromosomes were found to carry point gene conversions normally present in the pseudogene. Within the classic form, the most common mutations were the splicing mutation A/C-655 to G in intron 2 (34.2%), the nonsense mutation C-1993 to T in exon 8 (10.8%), and the missense mutation T-999 to A in exon 4 (10%). Within the non-classic form, the missense mutation G-1683 to T was the most common (57.7%). Other mutations were either absent, such as the three clustered missense mutations T-1380, T-1383, T-1389 to A in exon 6, or very rare, like the 1761 + T in exon 7 and the C-2108 to T in exon 8. Family genotyping revealed the presence of ten asymptomatic parents carrying mutations in both chromosomes, thus identifying the gene defect in cryptic subjects. Interestingly, the same mutations were found in both symptomatic and asymptomatic forms.
Similar content being viewed by others
Author information
Authors and Affiliations
Additional information
Received: 10 November 1995 / Revised: 18 March 1996, 30 May 1996
Rights and permissions
About this article
Cite this article
Carrera, P., Bordone, L., Azzani, T. et al. Point mutations in Italian patients with classic, non-classic, and cryptic forms of steroid 21-hydroxylase deficiency. Hum Genet 98, 662–665 (1996). https://doi.org/10.1007/s004390050280
Issue Date:
DOI: https://doi.org/10.1007/s004390050280