Two Novel Mutations in the C-Terminal Region of Centrosomal Protein 290 (CEP290) Result in Classic Joubert Syndrome. (May 2015)

• Record Type: Journal Article
• Authors: Wang, Lixia; Yang, Yun; Song, Jieping; Mao, Liangwei; Wei, Xiaoming; Sun, Yan; Yang, Shuang; Mu, Feng; Wang, Hairong; Niu, Yanfeng
• Is Part Of: Journal of child neurology. Volume 30:Number 6(2015:Jul.)
• Page Start: 772
• Page End: 776
• Publication Date: 2015-05
• Subjects: CEP290 -- compound heterozygosity -- Joubert syndrome -- next-generation sequencing -- novel mutations; Nervous system -- Diseases -- Periodicals; 618.928
• DOI: 10.1177/0883073814535488
• Languages: English
• ISSNs: 0883-0738

Abstract

Joubert syndrome is a neurologic disorder with a pathognomonic "molar tooth sign" on brain imaging. The purpose of this study was to identify potential mutations in a Chinese patient with Joubert syndrome by targeted massively parallel sequencing. Taking advantage of high-throughput DNA sequencing technologies, 18 Joubert-causing genes of a Chinese patient with classic Joubert syndrome were sequenced at a time, and 2 novel variants in the CEP290 gene (c.7323_7327delAGAAG and c.6012-2A>G) were identified in this patient. Sanger validation showed that 2 variants were inherited from each parents, respectively. Both variants are located in the C-terminal region of the CEP290 protein and are predicted to be deleterious. The results support that the combination of targeted genes enrichment and next-generation sequencing is valuable molecular diagnostic tool and suitable for clinical application.