Abstract
Retinitis Pigmentosa (RP) is a group of heterogeneous genetic disorders with a worldwide prevalence of 1 in 4000 individuals [1]. RP can be inherited in autosomal, X-linked or mitochondrial format. X-linked RP (XLRP) is one of the most severe forms of retinopathies, accounting for about 10-20% of all RP cases. Mutations in the Retinitis Pigmentosa Gtpase Regulator (RPGR) gene are the major cause of XLRP, accounting for 70 to 80% of affected XLRP cases [2]. The initially identified RPGR (RPGRex1-19) contains 19 exons and encodes for a predicted 90 KDa protein [3]. A subsequent study identified a large C-terminal exon, called ORF15, in the major functional form (RPGRORF15). The exon ORF15 encodes a repetitive glycine and glutamic acid-rich domain with a evolutionary conserved basic C-terminal domain, and harbors a high frequency of reading-frameshift and premature stop mutations, producing truncated proteins of varying length [4]. More than 300 RPGR mutations have been reported, most causing XLRP, a few causing human cone-rod, cone, or macular dystrophies, or syndromal forms of XLRP with primary ciliary dyskinesia and hearing loss [5].
Original language | English |
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Pages (from-to) | e108 |
Number of pages | 2 |
Journal | Cloning and Transgenesis |
Volume | 3 |
Issue number | 1 |
DOIs | |
Publication status | Published - 25 Dec 2013 |
Keywords
- retinitis pigmentosa
- RP
- x-linked retinitis pigmentosa
- genetic disorder
- gene therapy