STEROID 21-HYDROXYLASE DEFICIENCY - 2 ADDITIONAL MUTATIONS IN SALT-WASTING DISEASE AND RAPID SCREENING OF DISEASE-CAUSING MUTATIONS

A method for genetic diagnosis of steroid 21-hydroxylase deficiency wa s developed based on allele-specific PCR. With this approach, genotypi ng of fourteen mutations and diagnosis of homozygous gene deletions ca n be performed within hours from tissue sampling. One patient with sal t-wasting disease had normal genotype at all positions screened. DNA s equencing revealed two novel mutations, a G to C transversion at the c onserved splice donor site of intron 7 and a TGG to TAG nonsense mutat ion at Trp 406 in exon 9. Allele-specific PCR was established also for these mutations and used to screen for their presence in the pseudoge ne. However, the two novel mutations were not found in at least 34 pse udogenes.