title: [Suspected pathogenic mutation identified in two cases with oculocutaneous albinism].
abstract: OBJECTIVE
  To 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.
  
  
  METHODS
  All 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.
  
  
  RESULTS
  For 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.
  
  
  CONCLUSIONS
  The coding region of the TYR gene c.925_926insC (p.Thr309ThrfsX9) probably underlies the OCA1 disease phenotype.
authors.affiliation: Department of Genetics, First Affiliated Hospital of Shanxi Medical University, Taiyuan, Shanxi 030001, P. R. China. acc0351@163.com.
authors.forename: Jiangmei
authors.initials: J
authors.lastname: He
authors.forename: Meiling
authors.initials: M
authors.lastname: Zheng
authors.forename: Guilin
authors.initials: G
authors.lastname: Zhang
authors.forename: Ailing
authors.initials: A
authors.lastname: Hua
mesh_terms: D000328:Adult; D016115:Albinism, Oculocutaneous / Q000201:enzymology* / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010088:Oxidoreductases / Q000235:genetics*; D010375:Pedigree
chemical_list: D008562:Membrane Glycoproteins; D010088:Oxidoreductases; C489799:TYRP1 protein, human