Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome).
A mother and her son with albinism and sensorineural deafness compatible with Tietz syndrome (MIM 103500) are reported. An in-frame deletion of the MITF gene that is identical at the molecular level to the mouse mi mutant allele has been found in this family. MITF gene mutations account for 20% of Waardenburg syndrome (WS) type II. These data, together with the wide spectrum of mutant alleles reported in mi mice (which have pigmentary disorders), suggest that MITF could be regarded as a candidate gene in various pigmentation disorders in man.
Amiel
J
J
Unité de Recherces sur les Handicaps Génétiques de l'Enfant INSERM-U-393, Service de Génétique Médicale and Clinique Chirurgicale Infantile, Hôpital des Enfants Malades, Paris, France.
Watkin
P M
PM
Tassabehji
M
M
Read
A P
AP
Winter
R M
RM
D000328:Adult; D000417:Albinism / Q000150:complications* / Q000235:genetics*; D000483:Alleles; D000818:Animals; D004268:DNA-Binding Proteins / Q000235:genetics*; D003638:Deafness / Q000150:complications* / Q000151:congenital / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D051379:Mice; D008817:Mice, Mutant Strains; D051739:Microphthalmia-Associated Transcription Factor; D010641:Phenotype; D010859:Pigmentation Disorders / Q000235:genetics; D017384:Sequence Deletion; D013577:Syndrome; D014157:Transcription Factors; D014849:Waardenburg Syndrome / Q000145:classification / Q000235:genetics
D004268:DNA-Binding Proteins; C497234:MITF protein, human; D051739:Microphthalmia-Associated Transcription Factor; C497235:Mitf protein, mouse; D014157:Transcription Factors