title: [Identification of a novel pathogenic mutation in MATP gene with oculocutaneous albinism type IV from a consanguineous marriage family].
abstract: OBJECTIVE
  To clarify the pathogenicity-related genes and its mutations in an oculocutaneous albinism (OCA) patient from a consanguineous marriage family.
  
  
  METHODS
  Polymerase chain reaction (PCR) and automatic DNA sequencing methods, chromosome walking by PCR amplification techniques (PCR-Walking), multiplex PCR in a single PCR tube with 3 primers bridging the breakpoint (Gap-PCR) and bioinformatic analysis were employed for screening the mutations and identifying the novel mutation in the patient and his family.
  
  
  RESULTS
  A pathogenic deletion of 6365 bp was found in MATP gene with a range of c.562-1118 (± 2) to c.885 + 4923 (± 2). The patient was homozygous for deletion mutation.
  
  
  CONCLUSIONS
  A large deletion mutation was first detected and identified in OCA4.
authors.affiliation: Department of Medical Genetics, School of Medicine, Sun Yat-sen University, Guangzhou 510080, China.
authors.forename: Bei
authors.initials: B
authors.lastname: Xu
authors.forename: Ting
authors.initials: T
authors.lastname: Pang
authors.forename: Cui-qun
authors.initials: CQ
authors.lastname: Yao
authors.forename: Li-yun
authors.initials: LY
authors.lastname: Zhang
authors.forename: Hui
authors.initials: H
authors.lastname: Zheng
authors.forename: Wei-ying
authors.initials: WY
authors.lastname: Jiang
authors.forename: Hong-yi
authors.initials: HY
authors.lastname: Li
mesh_terms: D000328:Adult; D016115:Albinism, Oculocutaneous / Q000235:genetics*; D000951:Antigens, Neoplasm / Q000235:genetics*; D001483:Base Sequence; D016022:Case-Control Studies; D003241:Consanguinity; D005260:Female; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D010375:Pedigree; D017384:Sequence Deletion
chemical_list: D000951:Antigens, Neoplasm; D026901:Membrane Transport Proteins; C510061:SLC45A2 protein, human