Genetic analysis and prenatal diagnosis for 25 Chinese pedigrees affected with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
10.3760/cma.j.issn.1003-9406.2018.06.013
- Author:
Chunyu LUO
1
,
2
;
Tao JIANG
;
Jingjing ZHANG
;
Li LI
;
Yun SUN
;
Gang LIU
;
Yuguo WANG
;
Jian CHENG
;
Dingyuan MA
;
Zhengfeng XU
Author Information
1. Department of Prenatal Diagnosis, Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University, Nanjing, Jiangsu 210004, China. njxzf@126.com
2. dingyuanma2002@163.com.
- Publication Type:Journal Article
- MeSH:
Adrenal Hyperplasia, Congenital;
diagnosis;
genetics;
Asian Continental Ancestry Group;
China;
Female;
Humans;
Mutation;
Pedigree;
Pregnancy;
Prenatal Diagnosis;
Steroid 21-Hydroxylase;
genetics
- From:
Chinese Journal of Medical Genetics
2018;35(6):832-835
- CountryChina
- Language:Chinese
-
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.
