| Clinical variability of Waardenburg-Shah syndrome in patients with proximal 13q deletion syndrome including the endothelin-B receptor locus. | |
| | |
MedLine Citation:
|
PMID: 19764031 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
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 1 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. |
| | |
Authors:
|
Beyhan T??ys??z; Anna Collin; M??jde Arapo??lu; Nezir Suyug??l |
Publication Detail:
|
Type: Case Reports; Journal Article |
Journal Detail:
|
Title: American journal of medical genetics. Part A Volume: 149A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2009 Oct |
Date Detail:
|
Created Date: 2009-10-01 Completed Date: 2009-12-17 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
|
Languages: eng Pagination: 2290-5 Citation Subset: IM |
Affiliation:
|
Department of Pediatric Genetics, Cerrahpa??a Medical Faculty, Istanbul University, Istanbul, Turkey. beyhan@istanbul.edu.tr |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adolescent Child Child, Preschool Chromosome Deletion* Chromosomes, Human, Pair 13* / genetics Eye Abnormalities / complications, genetics Female Genetic Heterogeneity Genetic Loci / genetics, physiology Hirschsprung Disease / complications, genetics Humans Hypopigmentation / complications, genetics Male Phenotype Receptor, Endothelin B / genetics* Syndrome Waardenburg's Syndrome / classification, complications, diagnosis*, genetics* |
| Chemical | |
Reg. No./Substance:
|
0/Receptor, Endothelin B |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Complex contributions of Ets2 to craniofacial and thymus phenotypes of trisomic "Down syndrome" mice...
Next Document: Expanding CEP290 mutational spectrum in ciliopathies.