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J Med Genet 37:446-448 doi:10.1136/jmg.37.6.446
  • Short report

Tietz syndrome (hypopigmentation/deafness) caused by mutation ofMITF

  1. Shelley D Smith*,
  2. Philip M Kelley,
  3. Judith B Kenyon*,
  4. Denise Hoover*
  1. Center for Hereditary Communication Disorders, Boys Town National Research Hospital, 555 North 30th Street, Omaha, NE 68131, USA
  1. Dr Smith, ssmith{at}unmc.edu
  • Revised 17 December 1999
  • Accepted 25 January 2000

Abstract

Patients with Tietz syndrome have congenital profound deafness and generalised hypopigmentation, inherited in a fully penetrant autosomal dominant fashion. The pigmentary features and complete penetrance make this syndrome distinct among syndromes with pigmentary anomalies and deafness, which characteristically have patchy depigmentation and variable penetrance. Only one family has been reported with the exact features described in the original report of this syndrome. This family was reascertained and a missense mutation was found in the basic region of the MITFgene in family members with Tietz syndrome. Mutations in other regions of this gene have been found to produce Waardenburg syndrome type 2 (WS2), which also includes pigmentary changes and hearing loss, but in contrast to Tietz syndrome, depigmentation is patchy and hearing loss is variable in WS2.

Footnotes

  • * Present address: Center for Human Molecular Genetics, Munroe Meyer Institute, 985455 University of Nebraska Medical Center, Omaha, NE 68198-5455, USA