MUTATION OF THE MITF GENE IN ALBINISM-DEAFNESS SYNDROME (TIETZ-SYNDROME)

A mother and her son with albinism and sensorineural deafness compatib le with Tietz syndrome (MIM 103500) are reported. An in-frame deletion of the MITF gene that is identical at the molecular level to the mous e mi mutant allele has been found in this family. MITF gene mutations account for 20% of Waardenburg syndrome (WS) type II. These data, toge ther with the nide spectrum of mutant alleles reported in mi mice (whi ch have pigmentary disorders), suggest that MITF could be regarded as a candidate gene in various pigmentation disorders in man.