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In conclusion, we describe a new phenotype of typical X linked retinitis pigmentosa associated with hearing loss, chronic respiratory tract infections, and sinusitis caused by a mutation in RPGR. The systemic phenotypes are predicted to be variable, accentuated by repeated infections of the respiratory tract and consequent upon impaired mucociliary clearance (as described for PCD). Phenotypic variation between families may be caused by RPGR mutation type, genetic background, environmental effects, or a combination of these factors. Additional families will need to be investigated for SNPs on the X chromosome in proximity to RPGR to explore fully any phenotypic modification caused by adjacent loci. RPGR and interacting partners involved in kinociliary function in a variety of tissues may also represent attractive candidate genes for other phenotypes such as primary ciliary dyskinesia or isolated hearing loss.


Journal article


Journal of Medical Genetics

Publication Date





609 - 615