Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF

Shelley D Smith, Philip M. Kelley, Judith B. Kenyon, Denise Hoover

Research output: Contribution to journalArticle

94 Citations (Scopus)

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 MITF gene 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.

Original languageEnglish (US)
Pages (from-to)446-448
Number of pages3
JournalJournal of Medical Genetics
Volume37
Issue number6
StatePublished - Jun 28 2000

Fingerprint

Hypopigmentation
Deafness
Penetrance
Hearing Loss
Mutation
Missense Mutation
Genes
Tietz syndrome
Waardenburg syndrome type 2

Keywords

  • Deafness
  • MITF
  • Tietz syndrome
  • Waardenburg syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Smith, S. D., Kelley, P. M., Kenyon, J. B., & Hoover, D. (2000). Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF. Journal of Medical Genetics, 37(6), 446-448.

Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF. / Smith, Shelley D; Kelley, Philip M.; Kenyon, Judith B.; Hoover, Denise.

In: Journal of Medical Genetics, Vol. 37, No. 6, 28.06.2000, p. 446-448.

Research output: Contribution to journalArticle

Smith, SD, Kelley, PM, Kenyon, JB & Hoover, D 2000, 'Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF', Journal of Medical Genetics, vol. 37, no. 6, pp. 446-448.
Smith, Shelley D ; Kelley, Philip M. ; Kenyon, Judith B. ; Hoover, Denise. / Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF. In: Journal of Medical Genetics. 2000 ; Vol. 37, No. 6. pp. 446-448.
@article{416eb85a5b744568abd627faeb871d74,
title = "Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF",
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 MITF gene 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.",
keywords = "Deafness, MITF, Tietz syndrome, Waardenburg syndrome",
author = "Smith, {Shelley D} and Kelley, {Philip M.} and Kenyon, {Judith B.} and Denise Hoover",
year = "2000",
month = "6",
day = "28",
language = "English (US)",
volume = "37",
pages = "446--448",
journal = "Journal of Medical Genetics",
issn = "0022-2593",
publisher = "BMJ Publishing Group",
number = "6",

}

TY - JOUR

T1 - Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF

AU - Smith, Shelley D

AU - Kelley, Philip M.

AU - Kenyon, Judith B.

AU - Hoover, Denise

PY - 2000/6/28

Y1 - 2000/6/28

N2 - 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 MITF gene 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.

AB - 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 MITF gene 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.

KW - Deafness

KW - MITF

KW - Tietz syndrome

KW - Waardenburg syndrome

UR - http://www.scopus.com/inward/record.url?scp=0034045615&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0034045615&partnerID=8YFLogxK

M3 - Article

VL - 37

SP - 446

EP - 448

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

SN - 0022-2593

IS - 6

ER -