Suspected pathogenic mutation identified in two cases with oculocutaneous albinism.
- Author:
Jiangmei HE
1
;
Meiling ZHENG
;
Guilin ZHANG
;
Ailing HUA
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Albinism, Oculocutaneous; enzymology; genetics; Asian Continental Ancestry Group; genetics; Base Sequence; China; Exons; Female; Frameshift Mutation; Humans; Male; Membrane Glycoproteins; genetics; Molecular Sequence Data; Mutation, Missense; Oxidoreductases; genetics; Pedigree
- From: Chinese Journal of Medical Genetics 2015;32(4):509-511
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect potential mutations in genes related with non-syndromic oculocutaneous albinism I-IV and ocular albinism type I in two couples who had given births to children with albinism.
METHODSAll exons of the non-syndromic albinism related genes TYR, OCA2, TYRP-1, MITF, SLC45A2 and GPR143 were subjected to deep sequencing. The results were verified with Sanger sequencing.
RESULTSFor the two female carriers, the coding region of the TYR gene was found to harbor a frameshift mutation c.925_926insC, which was also suspected to have been pathogenic. In one of the male partners, a nonsense mutations c.832C>T was found, which was also known to be pathogenic. Another male partner was found to harbor a TYR gene mutation c.346C>T, which was also known to be a pathogenic nonsense mutation.
CONCLUSIONThe coding region of the TYR gene c.925_926insC (p.Thr309ThrfsX9) probably underlies the OCA1 disease phenotype.
