| Familial case of Blau syndrome associated with a CARD15/NOD2 mutation. | |
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MedLine Citation:
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PMID: 20565245 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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PURPOSE: Blau syndrome is a rare autosomal dominant disorder characterized by early onset granulomatous arthritis, uveitis, skin rash and camptodactyly. We report a familial case of Blau syndrome associated with a CARD15/NOD2 mutation. METHODS: PCR amplification and automated DNA sequencing of the complete CARD15/NOD2 coding sequence was performed. RESULTS: Molecular analysis in affected subjects disclosed a heterozygous c.1147G>C point mutation in CARD15/NOD2 exon 4, that predicts a p.E383K change at the protein level. CONCLUSIONS: Blau syndrome should be considered in the differential diagnosis of childhood uveitis and the genetic analysis of the CARD15/NOD2 gene is helpful in the diagnosis. |
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Authors:
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Cristina Villanueva-Mendoza; Lourdes Arellanes-García; Victoria Cubas-Lorenzo; Maria C Jimenez-Martinez; Luis Felipe Flores-Suárez; Juan Carlos Zenteno |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Ophthalmic genetics Volume: 31 ISSN: 1744-5094 ISO Abbreviation: Ophthalmic Genet. Publication Date: 2010 Sep |
Date Detail:
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Created Date: 2010-08-06 Completed Date: 2010-10-21 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9436057 Medline TA: Ophthalmic Genet Country: England |
Other Details:
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Languages: eng Pagination: 155-8 Citation Subset: IM |
Affiliation:
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Asociación para Evitar la Ceguera en México, Genetics, México City, Mexico. villanuevacristina@hotmail.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Arthritis, Rheumatoid / genetics* Exanthema / genetics* Female Fluorescein Angiography Humans Joint Diseases / genetics* Nod2 Signaling Adaptor Protein / genetics* Pedigree Point Mutation* Polymerase Chain Reaction Recurrence Syndrome Uveitis, Anterior / genetics* Young Adult |
| Chemical | |
Reg. No./Substance:
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0/NOD2 protein, human; 0/Nod2 Signaling Adaptor Protein |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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