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.
Conclusion: The child has suffered from oculocutaneous albinism type Ⅲ caused by mutations of the TYRP1 gene.