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Detection and assignment of CYP21 mutations using peptide mass signature genotyping.

Abstract：

:Congenital adrenal hyperplasia (CAH) is a common inborn error of steroidogenesis. The clinical spectrum of CAH ranges from the severe classical form, which can be fatal in the newborn, to simple virilizing forms or a milder non-classical form which is often not diagnosed until puberty. Recessive mutations in the autosomal gene encoding 21-hydroxylase (CYP21) are responsible for approximately 95% of CAH cases. Since CYP21 genotype is generally predictive of the presence and severity of the disorder, accurate CYP21 genotyping is of clear medical significance. Determining the CYP21 genotype of an individual, using standard methods, is difficult due to the presence of a nearly identical pseudogene (CYP21P) in close proximity to the functional gene. To address the need for a comprehensive test for mutations in the CYP21 gene, we developed a multiplexed peptide mass signature genotyping (PMSG) assay and applied the assay to 151 DNA samples. CAH patients had been previously characterized for the 10 most common mutations. The PMSG assay detected all common mutations; in addition it identified six known rare mutations and also discovered four new mutations (two frameshifts in the first half of the gene, P42fs and S171fs, and two point mutations, H365Y and R479L). This assay has the potential to provide high-throughput, cost-effective analysis of the CYP21 gene to detect known mutations and identify novel variants in samples obtained from patients with CAH, individuals suspected to have CAH, and heterozygous carriers.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Zeng X,Witchel SF,Dobrowolski SF,Moulder PV,Jarvik JW,Telmer CA

doi

10.1016/j.ymgme.2004.02.006

subject

Has Abstract

pub_date

2004-05-01 00:00:00

pages

38-47

issue

1

eissn

1096-7192

issn

1096-7206

pii

S1096719204000630

journal_volume

82

pub_type

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