| Dandy-Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.Asp50Asn) in the GJB2 gene encoding connexin 26. | |
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MedLine Citation:
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PMID: 19793313 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The Keratitis-Ichthyosis-Deafness syndrome (KIDS) is an autosomal dominant ectodermal dysplasia characterized by ocular, skin, and ear anomalies, including keratitis, palmoplantar keratoderma, and congenital hearing loss. Most cases are due to mutations in the GJB2 gene encoding connexin 26. The Dandy-Walker malformation (DWM) is a developmental anomaly of the midline of the cerebellum with complete or partial agenesis of the vermis and cystic dilatation of the fourth ventricle. The association of KID syndrome with DWM has been reported a few times, but thought to be coincidental. We report 4 additional patients with KIDS and DWM, supporting the possibility that this is an association and not a coincidental finding. This also suggests that the GJB2 gene may have a role in other cases with DWM of, as yet, unknown etiology. |
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Authors:
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Ingo Todt; Juliette Mazereeuw-Hautier; Barbara Binder; Patrick J Willems |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Clinical genetics Volume: 76 ISSN: 1399-0004 ISO Abbreviation: Clin. Genet. Publication Date: 2009 Oct |
Date Detail:
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Created Date: 2009-10-01 Completed Date: 2010-01-05 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: Denmark |
Other Details:
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Languages: eng Pagination: 404-8 Citation Subset: IM |
Affiliation:
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Department of Otolaryngology, Unfallkrankenhaus Berlin, Charit?? Medical School, Berlin, Germany. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Brain / pathology Connexins / genetics* Dandy-Walker Syndrome / genetics*, pathology Deafness / genetics* Female Humans Ichthyosis / genetics* Keratitis / genetics* Magnetic Resonance Imaging Male Middle Aged Mutation, Missense / genetics* |
| Chemical | |
Reg. No./Substance:
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0/Connexins; 127120-53-0/connexin 26 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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