Genetic analysis and prenatal diagnosis for 25 Chinese pedigrees affected with congenital adrenal hyperplasia due to 21-hydroxylase deficiency / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 832-835, 2018.
Article
in Zh
| WPRIM
| ID: wpr-775826
Responsible library:
WPRO
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.
Full text:
1
Index:
WPRIM
Main subject:
Pedigree
/
Prenatal Diagnosis
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Steroid 21-Hydroxylase
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China
/
Adrenal Hyperplasia, Congenital
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Asian People
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Diagnosis
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Genetics
/
Mutation
Type of study:
Diagnostic_studies
Limits:
Female
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Humans
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Pregnancy
Country/Region as subject:
Asia
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2018
Type:
Article