Mutations of the steroid 21-hydroxylase gene among Filipino patients with congenital adrenal hyperplasia / (Record no. 3116)

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Title Mutations of the steroid 21-hydroxylase gene among Filipino patients with congenital adrenal hyperplasia /
Statement of responsibility, etc. Eva Maria Cutiongco-de la Paz [and four others]
520 3# - SUMMARY, ETC.
Summary, etc. Congenital adrenal hyperplasia (CAH), an autosomal recessive disorder, is due to deficiency of the enzymes involved in adrenal steroidogenesis. Phenotypic manifestations vary as a result of the degree of glucocorticoid or mineralocorticoid deficiency and androgen excess present. Among Filipinos, the estimated crude incidence of CAH is approximately 1 in 7,000, which is higher than what is reported in most populations. More than 90% of all cases result from a 21-hydroxylase (21-OH) (cytochrome P450c21) enzyme deficiency involving two 21-OH genes, the active gene (CYP21) and a pseudogene (CYP21P). Studies have shown that mutations result from unequal crossover during meiosis which leads to complete deletion of the gene, gene conversion events or to point mutations. To date, there are no published data on the types of mutations present among Filipinos diagnosed with congenital adrenal hyperplasia. The objective of this study is to describe the profile of Filipino patients diagnosed with CAH and to determine the disease-causing alleles in the 21-OH gene of these patients. Using a method of combined differential polymerase chain reaction and amplification created restriction site approach, direct probing for the presence of known mutations in exons 1,3,4,6,7,8 and intron 2 of the CYP21 and CYP21P genes among Filipino patients with CAH was performed. A total of 12 unrelated CAH patients were examined. A majority of these cases had a premature splicing error mutation at nucleotide 656 of intron 2. The determination of the most frequent alleles in our population can facilitate rapid screening for mutations in the 21-OH gene and lead to a definitive diagnosis of CAH.
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Linking entry complexity note In: Acta Medica Philippina, 2009 vol 43 (2) pages: 32-35
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Topical term or geographic name entry element Adrenal Hyperplasia, Congenital
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Personal name Cutiongco-de la Paz, Eva Maria
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Personal name Abaya, Eric Christian
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Personal name Silao, Catherine Lynn T.
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Personal name Capistrano-Estrada, Sylvia
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Personal name David-Padilla, Carmencita
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Koha item type Journal Article
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    National Library of Medicine     DOH Central Library DOH Central Library Electronic Resource Section 02/27/2021   J000108 D0001J000108 02/27/2021 02/27/2021 Journal Article