Identification of a novel GPR143 mutation in a Chinese family affected with X-linked ocular albinism.
- VernacularTitle:一例眼白化病1型患儿GPR143基因的新突变
- Author:
Qi ZHAO
1
;
Menglong GUAN
;
Ling WANG
;
Yong LIAO
;
Jesse LI-LING
;
Huajing WAN
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Albinism, Ocular; genetics; Asian Continental Ancestry Group; genetics; Base Sequence; Eye Proteins; genetics; Female; Genetic Diseases, X-Linked; genetics; Humans; Infant; Male; Membrane Glycoproteins; genetics; Molecular Sequence Data; Mutation
- From: Chinese Journal of Medical Genetics 2017;34(2):224-227
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect mutation of GPR143 gene in a Chinese patient affected with ocular albinism.
METHODSPeripheral blood samples were collected from the proband and his parents. The coding regions of the GPR143 gene were subjected to PCR amplification and Sanger sequencing.
RESULTSA previously unreported mutation (c.758T>A) was found in exon 6 of the GPR143 gene in the proband and his mother. The same mutation was not found in his father. As predicted, the mutation has resulted in a stop codon, causing premature termination of protein translation.
CONCLUSIONA novel mutation of the GPR143 gene related to X-linked ocular albinism has been identified.
