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<i>RPGR</i> mutations might cause reduced orientation of respiratory cilia

6 Aug 2012

Abstract excerpt

RPGR gene encodes retinitis pigmentosa guanosine triphosphatase regulator protein, mutations of which cause 70% of the X-linked retinitis pigmentosa (XLRP) cases. Rarely, RPGR mutations can also cause primary ciliary dyskinesia (PCD), a multisystem disorder characterized by recurrent respiratory tract infections, sinusitis, bronchiectasis, and male subfertility. Two patients with PCD_RP and their relatives were...

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PMID: 22888088
DOI: 10.1002/ppul.22632

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