Mutations in TOPORS: a rare cause of autosomal dominant retinitis pigmentosa in continental Europe?

Claudia Schob, Ulrike Orth, Andreas Gal, Stefan Kindler, Christina F Chakarova, Shomi S Bhattacharya, Klaus Rüther

Institute for Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Ophthalmic genetics 2009 Jun

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Mutations in TOPORS cause autosomal dominant retinitis pigmentosa (adRP). Examination of 160 adRP patients from continental Europe revealed nine exonic single nucleotide variants, eight of which reside in the coding region; three synonymous single nucleotide polymorphisms (SNPs; c.2319T > C, c.2991T > C and c.1560A > G), three nonsynonymous SNPs (c.58C > T/p.P20S, c.74C >G/p.S25W and c.1730C > A/p.S577Y) and two novel missense mutations (c.1205A > C/p.Q402P and c.1818T > G/p.S606R). Whether the latter two variants represent adRP causing mutations awaits further analysis.

Citation

Claudia Schob, Ulrike Orth, Andreas Gal, Stefan Kindler, Christina F Chakarova, Shomi S Bhattacharya, Klaus Rüther. Mutations in TOPORS: a rare cause of autosomal dominant retinitis pigmentosa in continental Europe? Ophthalmic genetics. 2009 Jun;30(2):96-8