Mutation analysis and first-trimester prenatal diagnosis for a Chinese family with hidrotic ectodermal dysplasia.
- VernacularTitle:有汗型外胚层发育不良家系基因突变分析及孕早期产前诊断
- Author:
Ning LIU
1
,
2
;
Hui-rong SHI
;
Qing-hua WU
;
Miao JIANG
;
Xiang-dong KONG
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Asian Continental Ancestry Group; genetics; Base Sequence; Child; Child, Preschool; DNA Mutational Analysis; Ectodermal Dysplasia; diagnosis; embryology; genetics; Female; Fetal Diseases; diagnosis; genetics; Humans; Male; Molecular Sequence Data; Pedigree; Pregnancy; Pregnancy Trimester, First; genetics; Prenatal Diagnosis
- From: Chinese Journal of Medical Genetics 2013;30(4):407-409
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze GJB6 gene mutations in a Chinese family with hidrotic ectodermal dysplasia and to provide first-trimester prenatal diagnosis for a fetus.
METHODSMutation scanning was carried out with PCR and bilateral direct sequencing in 2 affected and 6 unaffected individuals from the family. After the mutation was confirmed, prenatal diagnosis was performed on chorionic villi samples obtained at 11th gestational week.
RESULTSA heterozygous missense mutation c.31G>A of the GJB6 gene was discovered in all of the patients, which has led to substitution of glycine by arginine at codon 11 (p.G11R) at the N-terminal of the GJB6 protein. Prenatal diagnosis indicated that the fetus had also carried the same p.G11R mutation. Following termination of the pregnancy, analysis of the aborted tissues was consistent with prenatal diagnosis.
CONCLUSIONThe missense mutation c.31G>A(p.G11R) of the GJB6 gene probably underlies the disease in this family. Prenatal diagnosis with DNA sequencing can facilitate genetic counseling of this family.
