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Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene
J A van den Hurk1, M Schwartz, H van Bokhoven
1Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
Human Mutation
|January 1, 1997
Abstract:
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.