March 2012
Volume 53, Issue 14
Free
ARVO Annual Meeting Abstract  |   March 2012
NOD2/CARD15 Gene Mutation Identified in a Chinese Family with Blau Syndrome
Author Affiliations & Notes
  • Haotian Xiang
    Ophthalmic Lab. & Dept. of Ophthalmology, West China Hospital, Sichuan University, China, Chengdu, China
  • Ting Zhang
    Ophthalmic Lab. & Dept. of Ophthalmology, West China Hospital, Sichuan University, China, Chengdu, China
  • Mengping Chen
    Department of Ophthalmology, the Second People's Hospital of Zhengzhou, Zhengzhou, China
  • Xiaomin Zhou
    Ophthalmic Lab. & Dept. of Ophthalmology, West China Hospital, Sichuan University, China, Chengdu, China
  • Zhen Li
    Department of Ophthalmology, the People's Hospital of Leshan, Leshan, China
  • Naihong Yan
    Ophthalmic Lab. & Dept. of Ophthalmology, West China Hospital, Sichuan University, China, Chengdu, China
  • Shiguang Li
    Department of Radiology, West China Hospital, Sichuan University, Chengdu, China
  • Qiyong Gong
    Department of Radiology, West China Hospital, Sichuan University, Chengdu, China
  • Xuyang Liu
    Ophthalmic Lab. & Dept. of Ophthalmology, West China Hospital, Sichuan University, China, Chengdu, China
  • Footnotes
    Commercial Relationships  Haotian Xiang, None; Ting Zhang, None; Mengping Chen, None; Xiaomin Zhou, None; Zhen Li, None; Naihong Yan, None; Shiguang Li, None; Qiyong Gong, None; Xuyang Liu, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science March 2012, Vol.53, 1572. doi:
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      Haotian Xiang, Ting Zhang, Mengping Chen, Xiaomin Zhou, Zhen Li, Naihong Yan, Shiguang Li, Qiyong Gong, Xuyang Liu; NOD2/CARD15 Gene Mutation Identified in a Chinese Family with Blau Syndrome. Invest. Ophthalmol. Vis. Sci. 2012;53(14):1572.

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Abstract

Purpose: : To characterize the clinical features of a Chinese pedigree with Blau syndrome and to identify mutations in NOD2/CARD15 gene.

Methods: : Clinical features of this family were evaluated. Genomic DNA was obtained from blood samples, and all exons of the NOD2/CARD15 gene 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 in NOD2/CARD15 gene in all patients of this pedigree, which resulted in an amino acid substitution at position 334 (R334W).

Conclusions: : R334W mutation of NOD2/CARD15 caused Blau syndrome in a Chinese pedigree. This is the first report of R334W mutation in NOD2/CARD15 gene in a Chinese pedigree with this disease.

Keywords: genetics 
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