Hostname: page-component-8448b6f56d-42gr6 Total loading time: 0 Render date: 2024-04-23T11:59:18.235Z Has data issue: false hasContentIssue false
  • English
  • Français

Hearing loss and pigmentary disturbances in Waardenburg syndrome with reference to WS Type II

Published online by Cambridge University Press:  29 June 2007

Xuezhong Liu ,
Valerie Newton  and
Andrew Read
Xuezhong Liu*
Affiliation:
Centre for Audiology, Education of the Deaf and Speech Pathology, University of Manchester, Manchester M13 9PL. Department of Medical Geneticst, University of Manchester, Manchester M13 9PL.
Valerie Newton
Affiliation:
Centre for Audiology, Education of the Deaf and Speech Pathology, University of Manchester, Manchester M13 9PL.
Andrew Read
Affiliation:
Department of Medical Geneticst, University of Manchester, Manchester M13 9PL.
*
Address for correspondence: Dr Xuezhong Liu, Centre for Audiology, Education of the Deaf and Speech Pathology, University of Manchester, Manchester M13 9PL. Fax: 061-275-3519
Get access Rights & Permissions [Opens in a new window]

Abstract

Thirty families in which there were 149 individuals affected by the Waardenburg syndrome (WS) were investigated for penetrance of hearing loss and pigmentary abnormalities. Twenty two families contained 89 individuals affected by WS Type II and eight families with 60 individuals affected by Type I. A bilateral symmetrical sensorineural hearing loss was found to be the most common type of hearing loss. The most frequent degree of hearing loss category was a hearing loss of > 100dB HL with no difference between syndrome types.

Although there was no significant difference in the frequency of pigmentation disorders between Type I and II, considering these abnormalities as a whole, heterochromia irides was more common in Type II than Type I and other pigmentation disorders were more frequent in Type I: 62 per cent of Type I patients had more than one pigmentary defect, but only 28 per cent of Type II. Pigmentary disturbances were not significantly more frequent in the hearing impaired group than in the normally hearing group in either Type I or II when taking into account the occurrence of only one pigmentation disorder. There was a significantly higher proportion of pigmentary defects in the hearing impaired group with Type I when only those having more than one pigmentary abnormality were compared: 93.3 per cent of Type I patients and 88.5 per cent of Type II patients with a profound hearing loss had pigmentary defects. The frequency of pigmentation disorders was not greater when the hearing loss was more severe in either type. Penetrance for hearing loss and pigmentary abnormalities showed marked intrafamilial and interfamilial variation.

Keywords

Waardenburg's syndromeHearing loss, Pigmentation disorders
Type
Main Articles
Information
The Journal of Laryngology & Otology , Volume 109 , Issue 2 , February 1995 , pp. 96 - 100
Copyright
Copyright © JLO (1984) Limited 1995

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Arias, S. (1971) Genetic heterogeneity in the Waardenburg syndrome Birth Defects: Original Article Series 7:87–101.Google Scholar
Arias, S., Mota, M. (1978) Apparent non-penetrance for dystopia canthorum in Waardenburg syndrome Type I, with some hints on diagnosis of dystopia canthorum. Journal of Human Genetics 26:103–131.Google ScholarPubMed
de-Saxe, M., Kromberg, J. G. R., Jenkins, T. (1984) Waardenburg syndrome in South Africa. Part I: An evaluation of the clinical findings in 11 families. South African Medical Journa 166: 256–261.Google Scholar
Farrer, W. S., Grundfast, K. M., Amos, J., Asher, J. H., Beighton, P., Diehl, S. R., Fex, J., Foy, C, Friedman, T. B., Greenberg, J., Hoth, C, Milunsky, A., Morell, R., Nance, W, Newton, V., Ramesar, R., Read, A. A, San Augustin, T. B., Shavers-Arnos, K., Skare, J., Stevens, C. C, Wagner, R. R, Wilcox, E. E, Winship, I. (1992) Waardenburg syndrome (WS) Type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS Consortium. American Journal of Human Genetics 50: 902–913.Google Scholar
Foy, C, Newton, V, Wellesley, D., Harris, R., Read, A. A (1990) Assigment of WS1 locus to human 2q37 and possible homology between Waardenburg syndrome and the Splotch mouse. American Journal of Human Genetics 46: 1017–1023.Google Scholar
Gorlin, R. R (1985) Some genetic syndromes of hearing loss and skin disorders. Advances in Audiology 3: 66–74.Google Scholar
Hageman, M. M, Delleman, J. J (1977) Heterogeneity in Waardenburg syndrome. American Journal of Human Genetics 29: 468–485.Google Scholar
Hildesheimer, M. M (1989) Auditory and vestibular findings in Waardenburg's Type IIsyndrome. Journal of Laryngology and Otology 103: 1130–1133.CrossRefGoogle Scholar
Hughes, A., Newton, V. V, Liu, X. X, Read, A. A (1994) A gene for Waardenburg syndrome Type II maps close to MITF, the human homologue of the mouse microphthalmia gene, at chromosomal location 3p12-p14.1. Nature Genetics 7: 509–512.Google Scholar
Liu, X. Z, Newton, V. V, Read, A. A (1995) Waardenburg syndrome: Type II: phenotypic findings and diagnostic criteria. American Journal of Medical Genetics (in press).CrossRefGoogle ScholarPubMed
Newton, V. V (1990) Hearing loss and Waardenburg syndrome: implications for genetic counselling. Journal of Laryngology and Otology 104: 97–103.Google Scholar
Robinson, D. C, Shipton, M. M (1977) Tables for the estimation of noise-induced hearing loss. National Physics Laboratory Report No.61.Google Scholar
Shipton, M. M (1977) Tables relating pure tone audiometric threshold to age. National Physics Laboratory Acoustics Report No. 94.Google Scholar
Tassabehji, M., Read, A. A, Newton, V. V, Harris, R., Balling, R., Gruss, P., Strachan, T. (1992) Waardenburg syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 355: 635–636.Google Scholar
Tassabehji, M., Newton, V. V, Leverton, K., Turnbull, K., Seemanova, E., Kunze, J., Sperling, K., Strachan, T, Read, A. A (1994) PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse, Human Molecular Genetics 3: 1069–1074.Google Scholar
Waardenburg, P. P (1951) A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of iris and head hair and with congenital deafness. American Journal of Human Genetics 3: 195–201.Google Scholar