Skip to main content
SpringerLink
Log in

Waardenburg-Syndrom

Eine heterogene Erkrankung mit variabler Penetranz

Waardenburg syndrome

A heterogenic disorder with variable penetrance

  • Originalien
  • Published:
HNO Aims and scope Submit manuscript

Zusammenfassung

Hintergrund

Das Waardenburg-Syndrom (WS) ist eine autosomal vererbte Erkrankung, welche definiert ist durch Pigmentanomalien in der Haut, den Haaren, den Augen sowie der Stria vascularis. Klinisch und genetisch werden derzeit 4 Typen des WS unterschieden. Diese repräsentieren ca. 2% der kongenitalen Schwerhörigkeiten.

Patienten und Methoden

Im Rahmen der Untersuchung kongenital schwerhöriger Kinder konnten wir an der Ege-Universität in Izmir 12 Familien mit WS Typ II identifizieren. Der Phänotyp dieser Familien, insbesondere die reduzierte Penetranz der Hörstörungen, war hierbei Gegenstand der Untersuchungen.

Ergebnis und Schlussfolgerung

Der Phänotyp der identifizierten Waardenburg-Typ-II-Familien variierte sowohl inter- als auch intrarfamiliär. Daher ist bei diesem Subtyp keine Voraussage möglich über die Ausprägung der klinischen Symptome, selbst innerhalb einer Familie. Dies gilt insbesondere für das Ausmaß der Schwerhörigkeit. Die Identifikation von Familien dieses Subtyps sollte bei der Identifikation neuer genetischer Risikofaktoren behilflich sein.

Abstract

Background

Waardenburg syndrome (WS) is an autosomal dominant disorder characterised by pigmentary anomalies of the skin, hairs, eyes and various defects of other neural crest derived tissues. It accounts for over 2% of congenital hearing impairment. At least four types are recognized on the basis of clinical and genetic criteria.

Patients and methods

Based on a screening of congenitally hearing impaired children, 12 families with WS type II were detected. Of special interest was the phenotype of these families, in particular the reduced penetrance of hearing impairment within the families.

Results and conclusion

In all cases a high variability of the disease phenotype was detected and the penetrance of the clinical traits varied accordingly. Therefore, it is not possible to predict the clinical phenotype even in a single family. Based on these studies, we plan to identify the pathogenetic cause of the disease in order to perform a detailed genotype/phenotype analysis.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Abb. 1
Abb. 2
Abb. 3

Literatur

  1. Waardenburg PJ (1951) A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Am J Hum Genet 3: 191–253

    Google Scholar 

  2. Arias S (1971) Genetic heterogeneity in the Waardenburg syndrome. Birth Defects 7(4): 87–101

    Google Scholar 

  3. Klein D (1983) Historical background and evidence for dominant inheritance of the Klein-Waardenburg syndrome (type III). Am J Hum Genet 14: 231–239

    CAS  Google Scholar 

  4. Shah KN, Dala SJ, Sheth PN, Joshi NC, Ambani LM (1981) White forelock, pigmentary disorder of the irides and long segment Hirschsprung disease: possible variant of Waardenburg syndrome. J Pediatr 99: 423–425

    PubMed  Google Scholar 

  5. Liu XZ, Newton VE, Read AP (1995) Waardenburg syndrome type 2: phenotypic findings and diagnostic criteria. Am J Hum Genet 55: 95–100

    CAS  Google Scholar 

  6. Hageman M, Delleman J (1977) Heterogeneity in Waardenburg syndrome. Am J Hum Genet 29: 468–485

    CAS  PubMed  Google Scholar 

  7. Newton VE (1990) Hearing loss and Waardenburg syndrome: implications for genetic counselling. J Laryngol Otol 104: 97–103

    CAS  PubMed  Google Scholar 

  8. da-Silva EO (1991) Waardenburg I syndrome: a clinical and genetic study of two large Brazilian kindreds, and literature review. Am J Hum Genet 40: 65–74

    CAS  Google Scholar 

  9. Arias S, Mota M (1978) Apparent non-penetrance for dystopia in Waardenburg syndrome type 1with some hints on the diagnosis of dystopia canthorum. J Genet Hum 26: 101–131

    Google Scholar 

  10. Newton VE (1989) Waardenburg‚s syndrome: a comparison of biometric indices used to diagnose lateral displacement of the ineer canthi. Scand Audiol 18: 221–223

    CAS  PubMed  Google Scholar 

  11. Tassabehji M, Read AP, Newton VE et al. (1992) Waardenburg syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 355: 635–636

    Article  CAS  PubMed  Google Scholar 

  12. Di George AM, Olmsted RW, Harley RD(1960) Waardenburg’s syndrome. J Pediatr 57: 649–669

    PubMed  Google Scholar 

  13. Tassabehji M, Newton VE, Read AP(1994) Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nature Genet 8: 251–255

    CAS  PubMed  Google Scholar 

  14. Farrer LA, Grundfast KM, Arnos J et al. (1992)Waardenburg syndrome (WS) type 1 is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium. Am J Hum Genet 50: 902–913

    CAS  PubMed  Google Scholar 

  15. Read AP, Newton VE (1997) Waardenburg syndrome. J Med Genet 34(8): 656–665

    CAS  PubMed  Google Scholar 

  16. Gross M, Lange K, Spormann-Lagodzinski M (2001) Angeborene Erkrankungen des Hörvermögens bei Kindern. Teil 2: Genetische Hörstörungen. HNO 49(8): 602–617

    Article  CAS  PubMed  Google Scholar 

Download references

Danksagung

Wir bedanken uns bei den Familien für Ihre Einwilligung zu dieser Studie. Die vorliegende Arbeit wurde unterstützt durch das Fortune Programm (79-0-0) der Universität Tübingen.

Interessenkonflikt:

Der korrespondierende Autor versichert, dass keine Verbindungen mit einer Firma, deren Produkt in dem Artikel genannt ist, oder einer Firma, die ein Konkurrenzprodukt vertreibt, bestehen.

Author information

Authors and Affiliations

  1. Hals-Nasen-Ohren-Klinik der Ege-Universität, Izmir, Türkei

    F. Apaydin, M. Bereketoglu, O. Turan & Ö. Günhan

  2. Hals-Nasen-Ohren-Klinik Tübingen

    K. Hribar, M. M. Maassen, H.-P. Zenner &  M. Pfister

  3. Hals-Nasen-Ohren-Klinik der Universität Tübingen, Elfriede-Aulhorn-Straße 5, 72076 , Tübingen

    M. Pfister

Authors
  1. F. Apaydin
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. M. Bereketoglu
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. O. Turan
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. K. Hribar
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. M. M. Maassen
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Ö. Günhan
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. H.-P. Zenner
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. M. Pfister
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to M. Pfister.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Apaydin, F., Bereketoglu, M., Turan, O. et al. Waardenburg-Syndrom. HNO 52, 533–537 (2004). https://doi.org/10.1007/s00106-003-0938-3

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00106-003-0938-3

Schlüsselwörter

Keywords

Search

Navigation