A de novo GJA1 mutation identified by whole-exome sequencing in a patient with oculodentodigital dysplasia.
- Author:
Hui ZENG
1
;
Li XIE
;
Mi TANG
;
Yifeng YANG
;
Zhiping TAN
Author Information
- Publication Type:Case Reports
- MeSH: Adult; Connexin 43; genetics; Craniofacial Abnormalities; genetics; Exome; Eye Abnormalities; genetics; Foot Deformities, Congenital; genetics; Humans; Male; Mutation; Sequence Analysis, DNA; Syndactyly; genetics; Tooth Abnormalities; genetics
- From: Chinese Journal of Medical Genetics 2018;35(2):268-271
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the genetic basis for a patient with oculodentodigital dysplasia.
METHODSGenomic DNA was extracted from peripheral blood samples from the patient and his parents. Whole-exome sequencing was carried out for the trio family. Suspected mutation was verified by Sanger sequencing.
RESULTSA de novo c.412G>A mutation of the GJA1 gene was identified in the patient, which was validated by Sanger sequencing.
CONCLUSIONThe c.412G>A mutation of the GJA1 gene probably underlies the disease in the patient.
