Mutation analysis for a pedigree affected with keratitis-ichthyosis-deafness syndrome.
- Author:
Lulu LI
1
;
Yuan LI
;
Wei LIN
;
Xiuli ZHAO
Author Information
- Publication Type:Journal Article
- MeSH: Child; Connexins; genetics; DNA Mutational Analysis; Humans; Keratitis; genetics; Male; Mutation; Pedigree
- From: Chinese Journal of Medical Genetics 2017;34(5):642-645
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify mutation of GJB2 gene and provide genetic counseling for a family affected with keratitis-ichthyosis-deafness (KID) syndrome.
METHODSGenomic DNA was extracted from peripheral blood samples with a standard phenol-chloroform method. PCR and Sanger sequencing were used to analyze potential mutation in the proband. Suspected mutation was verified with a PCR-high-resolution melting (PCR-HRM) method. T-clone sequencing was applied to determine the parental origin of the mutation.
RESULTSA heterozygous mutation, c.148G>A (p.Asp50Asn), which is located in the exon 1 of the GJB2 gene, was found in the proband. The results was confirmed by HRM analysis. Cloning sequencing suggested that the mutation was derived from the father's germline.
CONCLUSIONThe hot-spot mutation c.148G>A (p.Asp50Asn) in the GJB2 gene probably underlies the KID syndrome in this Chinese family. A PCR-HRM method has been established to rapidly detect common mutations associated with this disease.
