21-Hydroxylase Genotyping in Australasian Patients with Congenital Adrenal Hyperplasia

Y.W.A. Jeske, I.N. Mcgown, M. Harris, F.G. Bowling, D.M. Cowley, A.M. Cotterill, Catherine Choong

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    8 Citations (Scopus)


    Mutations in CYP21 (21-hydroxylase) leadto congenital adrenal hyperplasia (CAH). Wegenotyped 26 probands with CAH by PCRsequencingthe entire CYP21 gene. 25/26 hadhomozygous or compound heterozygous mutations.The frequencies of mutations were similarto other populations with deletion/hybrid, 12 Gsplice and I172N the most common. Fivepatients with a 1172N allele predicting simplevirilisingCAH had a salt-wasting phenotype.Two other probands also had a more severephenotype than predicted by genotype. Twofamilies had both non-classic and salt-wastingphenofypes arising from combinations of threedeleterious alleles. Two novel CYP21 alleles weredetected: D106N and a large deletion encompassingCYP21 and adjacent pseudogene. Tworare CYP21 alleles were also found. Three ofthese four novel/rare alleles were only detectedas a result of sequencing the entire CYP21 gene.Entire CYP21 sequencing will increase thenumber of mutations detected in CAH, and incombination with functional studies shouldcontribute a greater understanding of phenotype-gcnotype correlations.
    Original languageEnglish
    Pages (from-to)127-141
    JournalJournal of Pediatric Endocrinology & Metabolism
    Issue number2
    Publication statusPublished - 2009


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