Mutation analysis of CRYBB1 gene and prenatal diagnosis for a Chinese kindred featuring autosomal dominant congenital nuclear cataract.
- Author:
Qinghua WU
1
;
Huirong SHI
;
Ning LIU
;
Ning LU
;
Miao JIANG
;
Zhenhua ZHAO
;
Xiangdong KONG
Author Information
- Publication Type:Case Reports
- MeSH: Asian Continental Ancestry Group; genetics; Base Sequence; Cataract; congenital; diagnosis; genetics; China; DNA Mutational Analysis; Female; Genes, Dominant; Genetic Counseling; Genotype; Humans; Male; Mutation; Pedigree; Pregnancy; Prenatal Diagnosis; Young Adult; beta-Crystallin B Chain; genetics
- From: Chinese Journal of Medical Genetics 2013;30(3):266-269
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo perform mutation screening and prenatal diagnosis for a five-generation Chinese pedigree with autosomal dominant congenital nuclear cataract from Henan province by DNA sequencing.
METHODSBlood samples were taken from the family members. Four candidate genes (CRYBA1/A3, CRYBB1, CRYBB2 and CRYGD) were screened for mutations using direct sequencing. Prenatal genetic diagnosis was provided for a fetus at early gestation through chorionic villus sampling.
RESULTSA missense mutation, c.387C to A, was detected in exon 4 of the CRYBB1 gene in all of the patients. The mutation has resulted in a p.S129R transversion. The same mutation was not found in the fetus of the proband, who was confirmed to be healthy by one-year follow-up.
CONCLUSIONA missense mutation p.S129R of the CRYBB1 gene probably underlies the autosomal dominant congenital nuclear cataract in this pedigree. Detection of the mutation also facilitated prenatal genetic testing for the family.
