Clinical Variability of Waardenburg-Shah Syndrome in Patients With Proximal 13q Deletion Syndrome Including the Endothelin-B Receptor Locus
(2009) In American Journal of Medical Genetics. Part A 149A(10). p.2290-2295- Abstract
- Waardenburg-Shah syndrome (Waardenburg syndrome type IV-WS4) is an auditory-pigmentary disorder that combines clinical features of pigmentary abnormalities of the skin, hair and irides, sensorineural hearing loss, and Hirschsprung disease (HSCR). Mutations in the endothelin-B receptor (EDNRB) gene on 13q22 have been found to cause this syndrome. Mutations in both alleles cause the full phenotype, while heterozygous mutations cause isolated HSCR or HSCR with minor pigmentary anomalies and/or sensorineural deafness. We investigated the status of the EDNRB gene, by FISH analysis, in three patients with de novo proximal 13q deletions detected at cytogenetic analysis and examined the clinical variability of WS4 among these patients. Chromosome... (More)
- Waardenburg-Shah syndrome (Waardenburg syndrome type IV-WS4) is an auditory-pigmentary disorder that combines clinical features of pigmentary abnormalities of the skin, hair and irides, sensorineural hearing loss, and Hirschsprung disease (HSCR). Mutations in the endothelin-B receptor (EDNRB) gene on 13q22 have been found to cause this syndrome. Mutations in both alleles cause the full phenotype, while heterozygous mutations cause isolated HSCR or HSCR with minor pigmentary anomalies and/or sensorineural deafness. We investigated the status of the EDNRB gene, by FISH analysis, in three patients with de novo proximal 13q deletions detected at cytogenetic analysis and examined the clinical variability of WS4 among these patients. Chromosome 13q was screened with locus specific FISH probes and breakpoints were determined at 13q22.1q31.3 in Patients I and 3, and at 13q21.1q31.3 in Patient 2. An EDNRB specific FISH probe was deleted in all three patients. All patients had common facial features seen in proximal 13q deletion syndrome and mild mental retardation. However, findings related to WS4 were variable; Patient 1 had hypopigmentation of the irides and HSCR, Patient 2 had prominent bicolored irides and mild bilateral hearing loss, and Patient 3 had only mild unilateral hearing loss. These data contribute new insights into the pathogenesis of WS4. (C) 2009 Wiley-Liss, Inc. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1507678
- author
- Tuysuz, Beyhan ; Collin, Anna LU ; Arapoglu, Muejde and Suyugul, Nezir
- organization
- publishing date
- 2009
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- Waardenburg-Shah syndrome, 13q deletion, Hirschsprung disease, EDNRB, clinical variability
- in
- American Journal of Medical Genetics. Part A
- volume
- 149A
- issue
- 10
- pages
- 2290 - 2295
- publisher
- John Wiley & Sons Inc.
- external identifiers
-
- wos:000270745000038
- scopus:70349503633
- ISSN
- 1552-4825
- DOI
- 10.1002/ajmg.a.33031
- language
- English
- LU publication?
- yes
- id
- 84247f58-38de-419d-8084-c493f1424394 (old id 1507678)
- date added to LUP
- 2016-04-01 11:56:58
- date last changed
- 2022-01-26 20:38:22
@article{84247f58-38de-419d-8084-c493f1424394,
abstract = {{Waardenburg-Shah syndrome (Waardenburg syndrome type IV-WS4) is an auditory-pigmentary disorder that combines clinical features of pigmentary abnormalities of the skin, hair and irides, sensorineural hearing loss, and Hirschsprung disease (HSCR). Mutations in the endothelin-B receptor (EDNRB) gene on 13q22 have been found to cause this syndrome. Mutations in both alleles cause the full phenotype, while heterozygous mutations cause isolated HSCR or HSCR with minor pigmentary anomalies and/or sensorineural deafness. We investigated the status of the EDNRB gene, by FISH analysis, in three patients with de novo proximal 13q deletions detected at cytogenetic analysis and examined the clinical variability of WS4 among these patients. Chromosome 13q was screened with locus specific FISH probes and breakpoints were determined at 13q22.1q31.3 in Patients I and 3, and at 13q21.1q31.3 in Patient 2. An EDNRB specific FISH probe was deleted in all three patients. All patients had common facial features seen in proximal 13q deletion syndrome and mild mental retardation. However, findings related to WS4 were variable; Patient 1 had hypopigmentation of the irides and HSCR, Patient 2 had prominent bicolored irides and mild bilateral hearing loss, and Patient 3 had only mild unilateral hearing loss. These data contribute new insights into the pathogenesis of WS4. (C) 2009 Wiley-Liss, Inc.}},
author = {{Tuysuz, Beyhan and Collin, Anna and Arapoglu, Muejde and Suyugul, Nezir}},
issn = {{1552-4825}},
keywords = {{Waardenburg-Shah syndrome; 13q deletion; Hirschsprung disease; EDNRB; clinical variability}},
language = {{eng}},
number = {{10}},
pages = {{2290--2295}},
publisher = {{John Wiley & Sons Inc.}},
series = {{American Journal of Medical Genetics. Part A}},
title = {{Clinical Variability of Waardenburg-Shah Syndrome in Patients With Proximal 13q Deletion Syndrome Including the Endothelin-B Receptor Locus}},
url = {{http://dx.doi.org/10.1002/ajmg.a.33031}},
doi = {{10.1002/ajmg.a.33031}},
volume = {{149A}},
year = {{2009}},
}