Abstract: Objective: To identify the etiology and diagnosis of a patient characterized by facial hyperpigmentation with hypopigmentation, blue iris, and congenital deafness. Methods: Clinical data of the patient and his parents were collected. Peripheral blood DNA were extracted from them. Gene panel of genodermatoses sequencing was used to screen out the pathogenic genes, which was further obtained by bioinformatics analysis, and verified by Sanger sequencing in the patient and his parents. Results: A heterozygous mutation c.649_651delAGA (p.R217del) in MITF was identified in the patient but not in the parents, suggesting that the mutation was a de novo mutation. Conclusion: The heterozygous mutation of c.649_651delAGA (p.R217del) of MITF gene was the cause of  Waardenburg syndrome type II in this patient.

Key words: Waardenburg syndrome, MITF, blue iris