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Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa

Shujin Li^1,2,3, Mu Yang^1,2,3, Wenjing Liu²

¹1 Chengdu Institute of Biology , Chinese Academy of Sciences, Chengdu, P.R. China .

Genetic Testing and Molecular Biomarkers

|February 10, 2018

Abstract

Background:

Retinitis pigmentosa (RP) is a group of rare inherited retinal dystrophies that result in a progressive loss of vision. Molecular diagnosis of RP is difficult due to its phenotypic and genetic heterogeneities.

Aims:

To investigate causative genetic mutations in a collection of RP cases: one Indian and two Chinese families with autosomal-recessive RP and two sporadic patients with RP.

Materials And Methods:

A total of 163 genes, which have previously been found to be involved in inherited retinal disorders, were selected for targeted next-generation sequencing (NGS). Stringent NGS data analyses followed by confirmation using Sanger sequencing and segregation analyses were applied to evaluate all identified pathogenic mutations.

Results:

Four novel frameshift mutations and two compound heterozygous mutations were identified in RP1. In addition, all mutations were found to co-segregate with the disease in the three familial cases; none of the mutations were detected in control samples.

Conclusion:

This study expands the mutational spectrums of RP1 for RP.

Keywords:

RP1 autosomal recessive retinitis pigmentosa targeted NGS

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