A Novel RPGR Exon ORF15 Mutation in a Family With X-linked Retinitis Pigmentosa and Coats’-like Exudative Vasculopathy
✍ Scribed by F. Yesim K. Demirci; Brian W. Rigatti; Tammy S. Mah; Michael B. Gorin
- Book ID
- 116200797
- Publisher
- Elsevier Science
- Year
- 2006
- Tongue
- English
- Weight
- 236 KB
- Volume
- 141
- Category
- Article
- ISSN
- 0002-9394
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We describe three new mutations in a recently identi®ed exon, ORF15, of the retinitis pigmentosa GTPase regulator gene (RPGR) in three unrelated Japanese families (Families 1±3) with X-linked retinitis pigmentosa (XLRP). The affected males had typical retinitis pigmentosa (RP), whereas the obligate
X-linked forms of retinitis pigmentosa (XLRP) are among the most severe because of their early onset, often leading to significant visual impairment before the fourth decade. RP3, genetically localized at Xp21.1, accounts for 70% of XLRP in different populations. The RPGR (Retinitis Pigmentosa GTPas
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## Abstract 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