Tietz syndrome

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Classification according to ICD-10
E70.35 Albinism deafness
H91 Other hearing loss
ICD-10 online (WHO version 2019)

The Tietz's syndrome is a very rare congenital disease with a combination of albinism and deafness .

The syndrome should not be confused with Tietze syndrome , a chondroosteopathia of the rib .

The term refers to the authors of the first description in 1960 by the German - American pediatrician Walter Tietz.

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal dominant .

root cause

The disease are "missense" - mutations in MITF - gene on Chromosome 3 locus p13 based on which the associated microphthalmia transcription factor encoded.

Other mutations in this gene are found in Waardenburg syndrome type 2A.

Clinical manifestations

Clinical criteria are:

  • Genuine albinism, snow white at birth, fair skin as adults, white to blonde hair and eyelashes
  • blue iris
  • Hypoplasia of the white eyebrows
  • Inner ear deafness on both sides, deafness

literature

  • T. Shigemura, M. Shiohara, M. Tanaka, K. Takeuchi, K. Koike: Effect of the mutant microphthalmia-associated transcription factor found in Tietz syndrome on the in vitro development of mast cells. In: Journal of pediatric hematology / oncology. Vol. 32, No. 6, August 2010, pp. 442-447, doi: 10.1097 / MPH.0b013e3181d9da5d , PMID 20485200 .
  • K. Izumi, T. Kohta, Y. Kimura, S. Ishida, T. Takahashi, A. Ishiko, K. Kosaki: Tietz syndrome: unique phenotype specific to mutations of MITF nuclear localization signal. In: Clinical genetics. Vol. 74, No. 1, July 2008, pp. 93-95, doi: 10.1111 / j.1399-0004.2008.01010.x , PMID 18510545 .

Individual evidence

  1. ↑ a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  2. ↑ Encyclopedia Dermatology
  3. ↑ a b c d Tietz syndrome. In: Orphanet (Rare Disease Database).
  4. ↑ W. Tietz: Dominant albinism associated with deaf-mutism. Presented at the American Society of Human Genetics , April 1960, pp. 28-30.
  5. ^ W. Tietz: A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance. In: American Journal of Human Genetics . Volume 15, September 1963, pp. 259-264, PMID 13985019 , PMC 1932384 (free full text).
  6. ↑ Tietz albinism-deafness syndrome.  In: Online Mendelian Inheritance in Man . (English)

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