Identification of a novel pathogenic mutation in MATP gene with oculocutaneous albinism type IV from a consanguineous marriage family
Xu, B.; Pang, T.; Yao, C.-q.; Zhang, L.-y.; Zheng, H.; Jiang, W.-y.; Li, H.-y.
Zhonghua Yi Xue Za Zhi 92(4): 254-258
2012
ISSN/ISBN: 0376-2491 PMID: 22490798 Document Number: 656904
To clarify the pathogenicity-related genes and its mutations in an oculocutaneous albinism (OCA) patient from a consanguineous marriage family. 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. 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. A large deletion mutation was first detected and identified in OCA4.