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.
Schob
Claudia
C
Institute for Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Orth
Ulrike
U
Gal
Andreas
A
Kindler
Stefan
S
Chakarova
Christina F
CF
Bhattacharya
Shomi S
SS
Rüther
Klaus
K
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