OBJECTIVE: To determine the genetic cause for a patient featuring decreased 
pigmentation of the skin and iris, hearing loss and multiple congenital 
anomalies.
METHODS: Routine chromosomal banding was performed to analyze the karyotype of 
the patient and his parents. Single nucleotide polymorphism array (SNP array) 
was employed to identify cryptic chromosome aberrations, and quantitative 
real-time PCR was used to confirm the results.
RESULTS: Karyotype analysis has revealed no obvious anomaly for the patient and 
his parents. SNP array analysis of the patient has demonstrated a 3.9 Mb 
deletion encompassing 3p13p14.1, which caused loss of entire MITF gene. The 
deletion was confirmed by quantitative real-time PCR. Clinical features of the 
patient have included severe bilateral hearing loss, decreased pigmentation of 
the skin and iris and multiple congenital anomalies.
CONCLUSION: The patient, carrying a 3p13p14.1 deletion, has features of Tietz 
syndrome/Waardenburg syndrome type IIa. This case may provide additional data 
for the study of genotype-phenotype correlation of this disease.