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Article

Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations.

PloS one - 1 Jan 2016

Tiwari Amit, Lemke Johannes, Altmueller Janine, Thiele Holger, Glaus Esther, Fleischhauer Johannes, Nürnberg Peter, Neidhardt John, Berger Wolfgang

Abstract excerpt

Inherited retinal dystrophies (IRDs) are Mendelian diseases with tremendous genetic and phenotypic heterogeneity. Identification of the underlying genetic basis of these dystrophies is therefore challenging. In this study we employed whole exome sequencing (WES) in 11 families with IRDs and identified disease-causing variants in 8 of them. Sequence analysis of about 250 IRD-associated genes revealed 3 previously...

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Identifiers

PMID: 27391102
DOI: 10.1371/journal.pone.0158692
PMCID: PMC4938416

Genes

CDHR1
PRPF31
BEST1
PRPF8
RHO
RPGRIP1

Variants

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