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Targeted Next Generation Sequencing Revealed Novel PRPF31 Mutations in Autosomal Dominant Retinitis Pigmentosa.

Genetic testing and molecular biomarkers - 1 Jul 2018

Xie Dan, Peng Kun, Yi Qian, Liu Wenjinag, Yang Yeming, Sun Kuanxiang, Zhu Xianjun, Lu Fang

Abstract excerpt

BACKGROUND: Retinitis pigmentosa (RP) is a rare type of inherited retinal dystrophy that can result in progressive vision loss. Molecular diagnosis of RP is challenging due to phenotypic and genotypic heterogeneities. AIMS: This study aimed to identify the pathogenic mutations in two Chinese families with autosomal dominant RP (adRP) and in a patient with sporadic RP. MATERIALS AND METHODS: Peripheral blood DNA...

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Identifiers

PMID: 29957067
DOI: 10.1089/gtmb.2018.0036

Genes

PRPF31

Variants

Provenance

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