Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene

• Published in: Journal of medical genetics Vol. 39; no. 4; pp. 284 - 285
• Main Authors: Rozet, J-M, Perrault, I, Gigarel, N, Souied, E, Ghazi, I, Gerber, S, Dufier, J-L, Munnich, A, Kaplan, J
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group Ltd 01.04.2002; BMJ Publishing Group LTD; BMJ Group
• Subjects: Adolescent; Adult; Alternative Splicing - genetics; Carrier Proteins - genetics; Child; Exons - genetics; Eye Proteins; Female; Genes; Genes, Dominant - genetics; Genetic Carrier Screening; Genetic Linkage - genetics; Genetic Testing; Humans; Letter to JMG; Localization; Male; Mutation; Open Reading Frames - genetics; Pedigree; retinitis pigmentosa; Retinitis Pigmentosa - genetics; RPGR gene; Sequence Deletion; X Chromosome - genetics
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.39.4.284

[...]we report here on the identification of null RPGR alleles in patients affected with DXLRP. In these females whose ERG is non-recordable, no preferential X inactivation was observed. 6 It would be extremely interesting to know the exact phenotype of females harbouring truncating mutations in RPGR exon ORF15 in the XLRP families recently reported by Vervoort et al. 5 Indeed, if some of the women were more severely affected than is usually described for carrier females in recessive X linked RP (that is, tapetal-like reflex or peripheral pigmentary deposits in the fundus), we would have to consider RP3 as an incomplete dominant X linked disease such as is now reported for ornithine transcarbamylase deficiency. 11 Table 1 RPGR mutations in unrelated DXLRP families Family Mutation Predicted effect 1 g.ORF15+465 G>T p.ORF15 E155X 2 Unidentified 3 g.ORF15+1083_1087 del 5bp Frameshift 4 g.ORF15+930 G>T p.ORF15 G310X 5 Unidentified 6 g.ORF15+650_651 del AG Frameshift 7 Unidentified 8 Unidentified 9 Unidentified 10 g.ORF15+1059 G>T p.ORF15 E353X 11 g.ORF15+481_482 del GA Frameshift 12 g.ORF15+481_482 del GA Frameshift 13 g.ORF15+434 del G Frameshift 14 g.ORF15+650_651 del AG Frameshift Pedigrees of X linked dominant RP families.