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RPGR mutation analysis and disease: an update
Author(s) -
Shu Xinhua,
Black Graeme C.,
Rice Jacqueline M.,
HartHolden Niki,
Jones Alison,
O'Grady Anna,
Ramsden Simon,
Wright Alan F.
Publication year - 2007
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.20461
Subject(s) - retinitis pigmentosa , biology , exon , genetics , mutation , cilium , dystrophy , primary ciliary dyskinesia , photoreceptor cell , abca4 , gene , retina , phenotype , medicine , neuroscience , lung , bronchiectasis
Mutations in the retinitis pigmentosa GTPase regulator ( RPGR ) gene are the most common single cause of retinitis pigmentosa, accounting for up to 15 to 20% of cases in Caucasians. A total of 240 different RPGR mutations have been reported, including 24 novel ones in this work, which are associated with X‐linked retinitis pigmentosa (XLRP) (95%), cone, cone‐rod dystrophy, or atrophic macular atrophy (3%), and syndromal retinal dystrophies with ciliary dyskinesia and hearing loss (2%). All disease‐causing mutations occur in one or more RPGR isoforms containing the carboxyl‐terminal exon open reading frame 15 (ORF15), which are widely expressed but show their highest expression in the connecting cilia of rod and cone photoreceptors. Of reported RPGR mutations, 55% occur in a glutamic acid‐rich domain within exon ORF15, which accounts for only 31% of the protein. RPGR forms complexes with a variety of other proteins and appears to have a role in microtubular organization and transport between photoreceptor inner and outer segments. Hum Mutat 28(4), 322–328, 2007. © 2006 Wiley‐Liss, Inc.