Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population

Scientific Reports
Yanan DiZhenglin Yang

Abstract

Retinitis pigmentosa (RP) is a rare heterogeneous genetic retinal dystrophy disease, and despite years of research, known genetic mutations can explain only approximately 60% of RP cases. We sought to identify the underlying genetic mutations in a cohort of fourteen Indian autosomal recessive retinitis pigmentosa (arRP) families and 100 Indian sporadic RP cases. Whole-exome sequencing (WES) was performed on the probands of the arRP families and sporadic RP patients, and direct Sanger sequencing was used to confirm the causal mutations identified by WES. We found that the mutations of EYS are likely pathogenic mutations in two arRP families and eight sporadic patients. Specifically, we found a novel pair of compound heterozygous mutations and a novel homozygous mutation in two separate arRP families, and found two novel heterozygous mutations in two sporadic RP patients, whereas we found six novel homozygous mutations in six sporadic RP patients. Of these, one was a frameshift mutation, two were stop-gain mutations, one was a splicing mutation, and the others were missense mutations. In conclusion, our findings expand the spectrum of EYS mutations in RP in the Indian population and provide further support for the role of EYS in ...Continue Reading

References

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Citations

Mar 23, 2017·European Journal of Human Genetics : EJHG·Winston LeeRando Allikmets
Feb 10, 2018·Genetic Testing and Molecular Biomarkers·Shujin LiXianjun Zhu
May 24, 2019·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Shimpei TakitaYuko Seko
Aug 15, 2020·Frontiers in Genetics·Sandhya Kiran PemmasaniAnuradha Acharya
May 19, 2021·Orphanet Journal of Rare Diseases·Ana B Garcia-DelgadoBerta de la Cerda

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Methods Mentioned

BETA
electrophoresis
PCR

Software Mentioned

SIFT
Primer
SnpEff
Illumina base calling
Ployphen2
SMART
PROVEAN

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