Mutation analysis for GJB2 and LOR genes in two patients with Vohwinkel syndrome.
- VernacularTitle:基质金属蛋白酶-3基因多态性与脑卒中亚型的相关性
- Author:
Yu-mei LIU
1
;
Xin-jing GAO
;
Xin TIAN
;
Xue-mei LI
;
Xi-bao ZHANG
Author Information
- Publication Type:Case Reports
- MeSH: Abnormalities, Multiple; genetics; pathology; Adult; Child, Preschool; Connexin 26; Connexins; genetics; Female; Hand Deformities, Congenital; genetics; pathology; Hearing Loss, Sensorineural; genetics; pathology; Humans; Keratoderma, Palmoplantar; genetics; pathology; Male; Membrane Proteins; genetics; Mutation, Missense; Sequence Analysis, DNA
- From: Chinese Journal of Medical Genetics 2013;30(2):203-206
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect potential mutations of gap junction protein beta 2 (GJB2) and loricrin (LOR) genes in two patients with Vohwinkel syndrome.
METHODSPolymerase chain reaction and DNA sequencing were used for detecting potential mutations in the GJB2 and LOR genes. Parents of one patient and 50 healthy individuals were used as controls.
RESULTSA novel homozygous missense mutation (c.A796G) of LOR gene was detected in one patient. The same mutation was not found in the other patient, their relatives and the 50 healthy controls.
CONCLUSIONA missence mutation of LOR gene was detected in a patient with Vohwinkel syndrome.
