Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families

Scientific Reports
Lulin HuangZhenglin Yang

Abstract

Retinitis pigmentosa (RP) is highly heterogeneous in both clinical and genetic fields. Accurate mutation screening is very beneficial in improving clinical diagnosis and gene-specific treatment of RP patients. The reason for the difficulties in genetic diagnosis of RP is that the ethnic-specific mutation databases that contain both clinical and genetic information are largely insufficient. In this study, we recruited 98 small Han Chinese families clinically diagnosed as RP, including of 22 dominant, 19 recessive, 52 sporadic, and five X-linked. We then used whole exome sequencing (WES) analysis to detect mutations in the genes known for RP in 101 samples from these 98 families. In total, we identified 57 potential pathogenic mutations in 40 of the 98 (41%) families in 22 known RP genes, including 45 novel mutations. We detected mutations in 13 of the 22 (59%) typical autosomal dominant families, 8 of the 19 (42%) typical autosomal recessive families, 16 of the 52 (31%) sporadic small families, and four of the five (80%) X-linked families. Our results extended the mutation spectrum of known RP genes in Han Chinese, thus making a contribution to RP gene diagnosis and the pathogenetic study of RP genes.

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Citations

Apr 13, 2019·Clinical & Experimental Ophthalmology·Johannes BirtelPeter Charbel Issa
May 26, 2018·Scientific Reports·Kohta FujiwaraKoh-Hei Sonoda
Jul 17, 2020·Journal of Clinical Medicine·Spencer M MooreDaniel L Chao
Feb 19, 2021·Frontiers in Cell and Developmental Biology·Ting XiaoYang Li
Mar 12, 2021·BMC Medical Genomics·Dae Joong MaHyeong Gon Yu
Mar 25, 2021·Scientific Reports·Oksana KutsyrPedro Lax

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Methods Mentioned

BETA
exome sequencing

Software Mentioned

Sequencer
SIFT
Humphrey
PROVEAN
Polyphon
Polyphen

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