PMID: 9546825Apr 18, 1998Paper

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

Clinical Dysmorphology
J AmielR M Winter

Abstract

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.

Citations

May 29, 2002·The EMBO Journal·Ken-ichi YasumotoShigeki Shibahara
Jun 6, 2009·Pigment Cell & Melanoma Research·Stacie K LoftusWilliam J Pavan
Dec 10, 2009·Pigment Cell & Melanoma Research·Yann CheliCorine Bertolotto
Oct 19, 2011·Pigment Cell & Melanoma Research·Rachel E Bell, Carmit Levy
Apr 4, 2002·Proceedings of the National Academy of Sciences of the United States of America·Eiríkur SteingrimssonNancy A Jenkins
Jun 8, 2006·Proceedings of the National Academy of Sciences of the United States of America·Ling HouWilliam J Pavan
Sep 23, 2014·Gene·Siva Arumugam SaravanaperumalAntonietta La Terza
Jan 5, 2002·The Journal of Investigative Dermatology. Symposium Proceedings·S ShibaharaK Takahashi
Jan 5, 2002·The Journal of Investigative Dermatology. Symposium Proceedings·M Tachibana
Jun 24, 2003·The American Journal of Pathology·Jinyan DuDavid E Fisher
Jul 31, 2007·Dermatologic Clinics·Medhat A El-MoftyMona R E Abdel-Halim
May 20, 2003·Pigment Cell Research·Hideo SaitoShigeki Shibahara
May 23, 2007·Pigment Cell Research·Jón Hallsteinn HallssonEiríkur Steingrímsson
May 10, 2011·Journal of Zoology : Proceedings of the Zoological Society of London·W Lechner, F Ladich
Nov 26, 2009·American Journal of Medical Genetics. Part a·Pei-Wen ChiangTracy L McGregor
May 26, 2009·Hematology/oncology Clinics of North America·Devarati Mitra, David E Fisher
Dec 1, 2004·Annual Review of Genetics·Eiríkur SteingrímssonNancy A Jenkins
Sep 9, 2016·American Journal of Medical Genetics. Part a·Vianney Cortés-GonzálezCristina Villanueva-Mendoza
Jun 15, 2011·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Rizwan Haq, David E Fisher
May 20, 2017·American Journal of Epidemiology·Brian M LinGary C Curhan
Dec 19, 2018·Pediatric Dermatology·Mohammed D Saleem
Feb 24, 2007·American Journal of Medical Genetics. Part a·Thomas SchwarzbraunPeter M Kroisel

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