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

    Research output: Contribution to journalArticle

    8 Citations (Scopus)

    Abstract

    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
    Volume22
    Issue number2
    DOIs
    Publication statusPublished - 2009

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    Steroid 21-Hydroxylase
    Congenital Adrenal Hyperplasia
    Alleles
    Mutation
    Salts
    Phenotype
    Pseudogenes
    Mutation Rate
    Genes
    Genotype
    Population

    Cite this

    Jeske, Y.W.A. ; Mcgown, I.N. ; Harris, M. ; Bowling, F.G. ; Cowley, D.M. ; Cotterill, A.M. ; Choong, Catherine. / 21-Hydroxylase Genotyping in Australasian Patients with Congenital Adrenal Hyperplasia. In: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM. 2009 ; Vol. 22, No. 2. pp. 127-141.
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    abstract = "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.",
    author = "Y.W.A. Jeske and I.N. Mcgown and M. Harris and F.G. Bowling and D.M. Cowley and A.M. Cotterill and Catherine Choong",
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    21-Hydroxylase Genotyping in Australasian Patients with Congenital Adrenal Hyperplasia. / Jeske, Y.W.A.; Mcgown, I.N.; Harris, M.; Bowling, F.G.; Cowley, D.M.; Cotterill, A.M.; Choong, Catherine.

    In: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, Vol. 22, No. 2, 2009, p. 127-141.

    Research output: Contribution to journalArticle

    TY - JOUR

    T1 - 21-Hydroxylase Genotyping in Australasian Patients with Congenital Adrenal Hyperplasia

    AU - Jeske, Y.W.A.

    AU - Mcgown, I.N.

    AU - Harris, M.

    AU - Bowling, F.G.

    AU - Cowley, D.M.

    AU - Cotterill, A.M.

    AU - Choong, Catherine

    PY - 2009

    Y1 - 2009

    N2 - 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.

    AB - 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.

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