MITF Gene Mutation in a Family with Waardenburg Syndrome Type 2A

This article reports on an 8-month-old male patient who presented with congenital deafness, bilateral grey-blue irises, yellowish hair, and lateral displacement of the inner eye corners. The patient and his family members underwent genetic sequencing analysis. The genetic test results indicated a heterozygous mutation of the MITF gene, c.970_972del (p.R324del), which is a de novo mutation. Neither parent had this mutation at the same site. According to the American College of Medical Genetics and Genomics （ACMG）guidelines, this variation is interpreted as pathogenic. The MITF gene c.970_972del (p.R324del) represents a new mutation site in Waardenburg syndrome type 2A and is the pathogenic gene causing the disease in this child.