title: [Diagnosis of a case with oculocutaneous albinism type Ⅲ with next generation exome capture sequencing].
abstract: OBJECTIVE
  To explore the clinical and genetic features of a Chinese boy with oculocutaneous albinism.
  
  
  METHODS
  The clinical features of the patient were analyzed. The DNA of the patient and his parents was extracted and sequenced by next generation exome capture sequencing. The nature and impact of detected mutation were predicted and validated.
  
  
  RESULTS
  The child has displayed strabismus, poor vision, nystagmus and brown hair. DNA sequencing showed that the patient has carried compound heterozygous mutations of the TYRP1 gene, namely c.1214C>A (p.T405N) and c.1333dupG, which were inherited from his mother and father, respectively. Neither mutation was reported previously.
  
  
  CONCLUSIONS
  The child has suffered from oculocutaneous albinism type Ⅲ caused by mutations of the TYRP1 gene.
authors.affiliation: Jinan Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. gaizhongtao@sina.com.
authors.forename: Yuqiang
authors.initials: Y
authors.lastname: Lyu
authors.forename: Jing
authors.initials: J
authors.lastname: Huang
authors.forename: Kaihui
authors.initials: K
authors.lastname: Zhang
authors.forename: Guohua
authors.initials: G
authors.lastname: Liu
authors.forename: Min
authors.initials: M
authors.lastname: Gao
authors.forename: Zhongtao
authors.initials: Z
authors.lastname: Gai
authors.forename: Yi
authors.initials: Y
authors.lastname: Liu
mesh_terms: D016115:Albinism, Oculocutaneous / Q000175:diagnosis / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D002675:Child, Preschool; D059472:Exome / Q000235:genetics*; D005192:Family Health; D005260:Female; D006579:Heterozygote; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D009154:Mutation; D010088:Oxidoreductases / Q000235:genetics*; D010290:Parents
chemical_list: D008562:Membrane Glycoproteins; D010088:Oxidoreductases; C489799:TYRP1 protein, human