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A novel crx mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree

International Journal of Ophthalmology(English edition) 2015年第6期8卷 1112-1117页

作者： Qin-Kang Lu Na Zhao Ya-Su Lv Wei-Kun Gong Hui-Yun Wang Qi-Hu Tong Xiao-Ming Lai Rong-Rong Liu Ming-Yan Fang Jian-Guo Zhang Zhen-Fang Du Xian-Ning Zhang Ophthalmology Center Yinzhou People's Hospital Yinzhou Hospital Affiliated to Medical School of Ningbo University Department of Cell Biology and Medical genetics Research Center for Molecular Medicine Institute of Cell BiologyZhejiang University School of Medicine BGI-Shenzhen

AIMTo identify the disease-causing gene mutation in a Chinese pedigree with autosomal dominant cone-rod dystrophy (adCORD).METHODSA southern Chinese adCORD pedigree including 9 affected individuals was studied. Whole-exome sequencing (WES), coupling the Agilent whole-exome capture system to the Illumina HiSeq 2000 DNA sequencing platform was used to search the specific gene mutation in 3 affected family members and 1 unaffected member. After a suggested variant was found through the data analysis, the putative mutation was validated by Sanger DNA sequencing of samples from all available family *** results of both WES and Sanger sequencing revealed a novel nonsense mutation c.C766T (p.Q256X) within exon 5 of crx gene which was pathogenic for adCORD in this family. The mutation could affect photoreceptor-specific gene expression with a dominant-negative effect and resulted in loss of the OTX tail, thus the mutant protein occupies the crx-binding site in target promoters without establishing an interaction and, consequently, may block *** modes of Mendelian inheritance in CORD have been observed, and genetic heterogeneity is a hallmark of CORD. Therefore, conventional genetic diagnosis of CORD would be time-consuming and labor-intensive. Our study indicated the robustness and cost-effectiveness of WES in the genetic diagnosis of CORD.

关键词： cone-rod dystrophy autosomal dominant cone-rod dystrophy whole-exome sequencing Sanger sequencing crx gene mutation

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