Mutation of the MITF gene in albinism‐deafness syndrome (Tietz syndrome)

摘要

A mother and her son with albinism and sensorineural deafness compatible with Tietz syndrome (MIM 103500) are reported. An in-frame deletion of theMITFgene that is identical at the molecular level to the mousemimutant allele has been found in this family.MITFgene mutations account for 20 of Waardenburg syndrome (WS) type II. These data, together with the wide spectrum of mutant alleles reported inmimice (which have pigmentary disorders), suggest thatMITFcould be regarded as a candidate gene in various pigmentation disorders in man.