Mutations in TOPORS: a rare cause of autosomal dominant retinitis pigmentosa in continental Europe?
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.
Institute for Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Claudia
C
Schob
Ulrike
U
Orth
Andreas
A
Gal
Stefan
S
Kindler
Christina F
CF
Chakarova
Shomi S
SS
Bhattacharya
Klaus
K
Rüther
D005060:Europe; D005799:Genes, Dominant; D006801:Humans; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D018807:Polymorphism, Single-Stranded Conformational; D012333:RNA, Messenger / Q000378:metabolism; D012174:Retinitis Pigmentosa / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D012333:RNA, Messenger; C120157:TOPORS protein, human; D044767:Ubiquitin-Protein Ligases