Detected heterozygotes during the molecular analysis of the common CYP21A2 point mutations in Macedonian patients with congenital adrenal hyperplasia and their relatives

Anastasovska Violeta; Kocova Mirjana

Detected heterozygotes during the molecular analysis of the common CYP21A2 point mutations in Macedonian patients with congenital adrenal hyperplasia and their relatives

Journal

Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)

Date Issued

2010

Author(s)

Abstract

Deficiency of 21-hydroxylase is present in 90-95% cases of congenital adrenal hyperplasia (CAH), an autosomal recessive disorder. Eleven common pseudogene-derived mutations account for approximately 95% of all affected CYP21A2 alleles in all three clinical forms of the disease.