Phelan J K, Bok D
Department of Pediatrics, University of California, Los Angeles 90095, USA.
Mol Genet Metab. 2000 May;70(1):81-3. doi: 10.1006/mgme.2000.2992.
Deletion mutations and linkage mapping have localized an X-linked retinitis pigmentosa locus to Xp21, and a disease gene (RPGR) has been characterized. However, mutations have not been identified in most families expected to segregate the disease at this locus. Here, a retina-specific mRNA transcript from the Duchenne muscular dystrophy gene is identified. Based on these data, it is hypothesized that the Duchenne muscular dystrophy gene may represent a second Xp21 site at which retinitis pigmentosa mutations occur.