Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene.
Choroideremia (CHM) is an X-linked recessive eye disease that results from mutations involving the Rab escort protein-1 (REP-1) gene. In 18 patients deletions of different sizes have been found. Two females suffering from CHM were reported to have translocations that disrupt the REP-1 gene. In 22 patients, small mutations have been identified. Interestingly, these are all nonsense, frameshift or splice-site mutations; with one possible exception, missense mutations have not been found. This comprises all the known mutations in the disease.
van den Hurk
J A
JA
Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
Schwartz
M
M
van Bokhoven
H
H
van de Pol
T J
TJ
Bogerd
L
L
Pinckers
A J
AJ
Bleeker-Wagemakers
E M
EM
Pawlowitzki
I H
IH
Rüther
K
K
Ropers
H H
HH
Cremers
F P
FP
D048868:Adaptor Proteins, Signal Transducing; D019883:Alkyl and Aryl Transferases; D002352:Carrier Proteins / Q000235:genetics*; D015794:Choroideremia / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D017353:Gene Deletion; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D017354:Point Mutation; D011110:Polymorphism, Genetic; D014178:Translocation, Genetic; D014960:X Chromosome / Q000235:genetics; D020691:rab GTP-Binding Proteins
D048868:Adaptor Proteins, Signal Transducing; C081787:CHM protein, human; D002352:Carrier Proteins; D019883:Alkyl and Aryl Transferases; D020691:rab GTP-Binding Proteins