Authors: I Milacic M Barac T Milenkovic M Ugrin K Klaassen A Skakic M Jesic I Joksic K Mitrovic S Todorovic S Vujovic S Pavlovic M Stojiljkovic
Publish Date: 2015/08/02
Volume: 38, Issue: 11, Pages: 1199-1210
Abstract
Congenital adrenal hyperplasia CAH is an autosomal recessive disease characterized by impaired adrenal steroidogenesis and most often caused by CYP21A2 gene mutations For the first time we reported complete spectrum and frequency of CYP21A2 gene mutations in 61 unrelated patients with classical and nonclassical CAH from SerbiaWe identified 18 different pathogenic alleles—two of them novel Mutation detection rate was highest in patients with saltwasting form of CAH 947 The most prevalent mutation was intron 2 splice site mutation c29013A/CG 185 Other mutation frequencies were CYP21A1P/CYP21A2 chimeras 13 pP30L 13 pR356W 111 pG110fs 74 pQ318X 46 pV281L 46 pI172N 28 pL307fs 28 pP453S 19 etc Mainly frequencies were similar to those in Slavic populations and bordering countries However we found 65 of alleles with multiple mutations frequently including pP453S Effects of novel mutations c386TC pLeu129Pro and c493TC pSer165Pro were characterized in silico as deleterious The effect of wellknown mutations on Serbian patients’ phenotype was as expected
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