A non‐ancestral <i>RPGR</i> missense mutation in families with either recessive or semi‐dominant X‐linked retinitis pigmentosa

Abstract excerpt

Most X-linked diseases show a recessive pattern of inheritance in which female carriers are unaffected. In X-linked retinitis pigmentosa (XLRP), however, both recessive and semi-dominant inheritance patterns have been reported. We identified an Israeli family with semi-dominant XLRP due to a missense mutation (p.G275S) in the RPGR gene. The mutation was previously reported in two Danish families with recessive...

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