Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene.

Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene.

Human mutation (1997-01-01)

J A van den Hurk, M Schwartz, H van Bokhoven, T J van de Pol, L Bogerd, A J Pinckers, E M Bleeker-Wagemakers, I H Pawlowitzki, K Rüther, H H Ropers, F P Cremers

PMID9067750

RESUMEN

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.