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NOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome.


ABSTRACT: PURPOSE: To characterize the clinical features of a Chinese pedigree with Blau syndrome and to identify mutations in the NOD2/CARD15 (nucleotide-binding oligomerization domain containing 2/caspase recruitment domain family, member 15) gene. METHODS: Clinical features of this family were evaluated. Genomic DNA was obtained from blood samples, and all exons of NOD2/CARD15 were amplified by polymerase chain reaction (PCR) and direct DNA sequencing of PCR products was performed for mutations in NOD2/CARD15. RESULTS: Granulomatous arthritis, uveitis, and skin granulomas were found in all affected members. Sequencing analysis demonstrated a heterozygous C>T mutation in exon 4 of NOD2/CARD15 in all patients of this pedigree, which resulted in an amino acid substitution at position 334 (p.R334W). CONCLUSIONS: The R334W mutation in NOD2/CARD15 caused Blau syndrome in a Chinese pedigree. This is the first report of R334W mutation in NOD2/CARD15 in a Chinese pedigree of this disease.

SUBMITTER: Xiang H 

PROVIDER: S-EPMC3324354 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature

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NOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome.

Xiang Haotian H   Zhang Ting T   Chen Mengping M   Zhou Xiaomin X   Li Zhen Z   Yan Naihong N   Li Shiguang S   Han Yu Y   Gong Qiyong Q   Liu Xuyang X  

Molecular vision 20120309


<h4>Purpose</h4>To characterize the clinical features of a Chinese pedigree with Blau syndrome and to identify mutations in the NOD2/CARD15 (nucleotide-binding oligomerization domain containing 2/caspase recruitment domain family, member 15) gene.<h4>Methods</h4>Clinical features of this family were evaluated. Genomic DNA was obtained from blood samples, and all exons of NOD2/CARD15 were amplified by polymerase chain reaction (PCR) and direct DNA sequencing of PCR products was performed for muta  ...[more]

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