AI Article Synopsis
- The study aimed to identify harmful mutations in the CYP21A2 gene among 25 Chinese families affected by congenital adrenal hyperplasia (CAH).
- Various methods were used to analyze the gene, revealing that 32% of the allele mutations were due to large deletions and conversions, including several complete gene deletions and a new mutation.
- Prenatal testing was offered to 28 at-risk fetuses, resulting in the identification of 8 affected cases, which aids in genetic counseling for these families.
Article Abstract
Objective: To identify pathogenic mutations in 25 Chinese pedigrees affected with congenital adrenal hyperplasia (CAH).
Methods: Mutations of the CYP21A2 gene were detected with locus-specific PCR/restriction endonuclease analysis, multiplex ligation-dependent probe amplification assay, and direct sequencing of the entire CYP21A2 gene. Prenatal diagnosis was offered to fetuses at risk for CAH.
Results: All 50 alleles of the CYP21A2 gene carried by the 25 pedigrees were successfully delineated. Large deletions and conversions have accounted for 16 (32%) of the alleles, which included 9 entire CYP21A2 gene deletions, 6 chimeric CYP21A1P/CYP21A2 genes, and 1 partial conversion of the CYP21A2 gene. For the remaining 34 alleles, there were 9 micro-conversions and 4 de novo mutations [including a previously unreported c.62G>A (p.Trp21X) mutation]. Prenatal diagnosis was provided for 28 fetuses with a high risk for CAH, among whom 8 were found to be affected.
Conclusion: The detection of CYP21A2 gene mutations can facilitate appropriate genetic counseling and prenatal diagnosis for the affected pedigrees.
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| http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2018.06.013 | DOI Listing |
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