Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients

Hui Huang, Ying Wang, Huishuang Chen, Yanhua Chen, Jing Wu, Pei Wen Chiang, Ning Fan, Yan Su, Jianlian Deng, Dongna Chen, Yang Li, Xinxin Zhang, Mengxin Zhang, Shengran Liang, Santasree Banerjee, Ming Qi, Xuyang Liu

Research output: Contribution to journalArticle

7 Scopus citations

Abstract

As the most common inherited retinal degenerations, retinitis pigmentosa (RP) is clinically and genetically heterogeneous. Some of the RP genes are also associated with other retinal diseases, such as LCA (Leber's congenital amaurosis) and CORD (cone-rod dystrophy). Here, in our molecular diagnosis of 99 Chinese RP patients using targeted gene capture sequencing, three probands were found to carry mutations of RPGRIP1, which was known to be associated with pathogenesis of LCA and CORD. By further clinical analysis, two probands were confirmed to be RP patients and one was confirmed to be LCA patient. These novel mutations were co-segregated with the disease phenotype in their families. Our result not only expands the mutational spectrum of the RPGRIP1 gene but also gives supports to clinical diagnosis and molecular treatment of RP patients.

Original languageEnglish (US)
Pages (from-to)35176-35183
Number of pages8
JournalOncotarget
Volume8
Issue number21
DOIs
StatePublished - 2017

Keywords

  • Gene panel
  • Leber's congenital amaurosis
  • Novel mutation
  • Retinitis pigmentosa
  • Targeted next generation sequencing

ASJC Scopus subject areas

  • Oncology

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  • Cite this

    Huang, H., Wang, Y., Chen, H., Chen, Y., Wu, J., Chiang, P. W., Fan, N., Su, Y., Deng, J., Chen, D., Li, Y., Zhang, X., Zhang, M., Liang, S., Banerjee, S., Qi, M., & Liu, X. (2017). Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients. Oncotarget, 8(21), 35176-35183. https://doi.org/10.18632/oncotarget.17052