Research Papers:

Novel mutations in CRB1 gene identified in a chinese pedigree with retinitis pigmentosa by targeted capture and next generation sequencing

Lan Lu, Xizhen Wang, David Lo, Jingning Weng, xiaohong Liu, Juhua Yang, Fen He, Yun Wang and Xuyang Liu _

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Oncotarget. 2016; 7:79797-79804. https://doi.org/10.18632/oncotarget.12971

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Lan Lu1,*, Xizhen Wang2,*, David Lo3, Jingning Weng1, xiaohong Liu4, Juhua Yang5, Fen He2, Yun Wang2, Xuyang Liu2

1Department of Ophthalmology, Fujian Medical University Union Hospital, Fuzhou, Fujian, 350001, China

2Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, Guangdong, 518000, China

3Department of Internal Medicine, Danbury, CT 06810, USA

4Department of Ophthalmology, The People's Hospital of Baoan Shenzhen, Guangdong, 518101, China

5Biomedical Engineering Center, Fujian Medical University, Fuzhou, Fujian, 350001, China

*The first two authors have contributed equally to this work

Correspondence to:

Xuyang Liu, email: xliu1213@126.com

Keywords: retinitis pigmentosa, pedigree, next generation sequencing, mutation

Received: August 08, 2016     Accepted: October 17, 2016     Published: October 28, 2016


PURPOSE: To detect the disease-causing gene in a Chinese pedigree with autosomal-recessive retinitis pigmentosa (ARRP).

METHODS: All subjects in this family underwent a complete ophthalmic examination. Targeted-capture next generation sequencing (NGS) was performed on the proband to detect variants. All variants were verified in the remaining family members by PCR amplification and Sanger sequencing.

RESULTS: All the affected subjects in this pedigree were diagnosed with retinitis pigmentosa (RP). The compound heterozygous c.138delA (p.Asp47IlefsX24) and c.1841G>T (p.Gly614Val) mutations in the Crumbs homolog 1 (CRB1) gene were identified in all the affected patients but not in the unaffected individuals in this family. These mutations were inherited from their parents, respectively.

CONCLUSION: The novel compound heterozygous mutations in CRB1 were identified in a Chinese pedigree with ARRP using targeted-capture next generation sequencing. After evaluating the significant heredity and impaired protein function, the compound heterozygous c.138delA (p.Asp47IlefsX24) and c.1841G>T (p.Gly614Val) mutations are the causal genes of early onset ARRP in this pedigree. To the best of our knowledge, there is no previous report regarding the compound mutations.

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