| Can a familial gastrointestinal tumour syndrome be allelic with Waardenburg syndrome? | |
| | |
MedLine Citation:
|
PMID: 20636395 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
|
Vilain RE, Dudding T, Braye SG, Groombridge C, Meldrum C, Spigelman AD, Ackland S, Ashman L, Scott RJ. Can a familial gastrointestinal tumour syndrome be allelic with Waardenburg syndrome? Familial gastrointestinal stromal tumours (GISTs) are rare but otherwise well-characterized tumour syndromes, most commonly occurring on a background of germline-activating mutations in the tyrosine kinase receptor c-KIT. The associated clinical spectrum reflects the constitutive activation of this gene product across a number of cell lines, generating gain-of-function phenotypes in interstitial cells of Cajal (GIST and dysphagia), mast cells (mastocytosis) and melanocytes (hyperpigmentation). We report a three-generation kindred harbouring a c-KIT germline-activating mutation resulting in multifocal GISTs, dysphagia and a complex melanocyte hyperpigmentation and hypopigmentation disorder, the latter with features typical of those observed in Waardenburg type 2 syndrome (WS2F). Sequencing of genes known to be causative for WS [microphthalmia transcription factor (MITF), Pax3, Sox10, SNAI2] failed to show any candidate mutations to explain this complex cutaneous depigmentation phenotype. Our case report conclusively expands the clinical spectrum of familial GISTs and shows a hitherto unrecognized link to WS. Possible mechanisms responsible for this novel cause of WS2F will be discussed. |
| | |
Authors:
|
Re Vilain; T Dudding; Sg Braye; C Groombridge; C Meldrum; Ad Spigelman; S Ackland; L Ashman; Rj Scott |
Related Documents
:
|
17143285 - Germline gain-of-function mutations in sos1 cause noonan syndrome. 8915985 - Gitelman's syndrome (bartter's variant) maps to the thiazide-sensitive cotransporter ge... 20419325 - Frasier syndrome: early gonadoblastoma and cyclosporine responsiveness. 17632775 - Filamin a mutation is one cause of fg syndrome. 19082735 - A model-based approach to understanding apraxia in corticobasal syndrome. 21323405 - Unlocking the 'locked-in syndrome'. |
Publication Detail:
|
Type: Journal Article |
Journal Detail:
|
Title: Clinical genetics Volume: 79 ISSN: 1399-0004 ISO Abbreviation: Clin. Genet. Publication Date: 2011 Jun |
Date Detail:
|
Created Date: 2011-05-05 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: Denmark |
Other Details:
|
Languages: eng Pagination: 554-60 Citation Subset: IM |
Copyright Information:
|
© 2010 John Wiley & Sons A/S. |
Affiliation:
|
Hunter Area Pathology Service, Hunter New England Health Service, Newcastle, NSW, Australia Hunter Genetics Unit, Hunter New England Health Service, Waratah, NSW, Australia Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia Department of Medical Oncology, Newcastle Mater Misericordiae Hospital, Waratah, NSW, Australia School of Biomedical Sciences, University of Newcastle, Callaghan, NSW, Australia. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Decrease of Trefoil factor 2 in cats with feline idiopathic cystitis.
Next Document: Mannose-binding lectin and susceptibility to tuberculosis: a meta-analysis.