PCD and RP: X-linked inheritance of both disorders?

摘要

A Caucasian, seven-generation family of Polish origin with apparently X-linked inheritance of coexisting retinitis pigmentosa (RP) and primary ciliary dyskinesia (PCD), with 14 identified males affected with RP and 14 obligate healthy female carriers, is presented. To our knowledge, four of the RP-affected males were diagnosed with PCD. The cases might imply the presence of one of the PCD loci, influencing neither laterality nor fertility, within the X-chromosome.