A family with RP3 type of X-linked retinitis pigmentosa : an association with ciliary abnormalities

The results of linkage analysis in a family with X-linked retinitis pigmentosa (XLRP) are presented. Probe M27B (DXS255), localized to Xp11.22, was only loosely linked to XLRP, whereas pHOC3 (OTC), in the more distal Xp21.1 region, was tightly linked. In this family, the conditional probability of a...

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Bibliographic Details
Published in:Human genetics 1992, Vol.88 (3), p.331-334
Main Authors: VAN DORP, D. B, WRIGHT, A. F, CAROTHERS, A. D, BLEEKER-WAGEMAKERS, E. M
Format: Article
Language:English
Subjects:
Biological and medical sciences
Ciliary Motility Disorders - complications
Ciliary Motility Disorders - genetics
Female
Genetic Carrier Screening
Genetic Linkage
Humans
Lod Score
Male
Medical sciences
Ophthalmology
Ornithine Carbamoyltransferase - genetics
Pedigree
Retinitis Pigmentosa - complications
Retinitis Pigmentosa - genetics
Retinopathies
Risk Factors
X Chromosome
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Summary:The results of linkage analysis in a family with X-linked retinitis pigmentosa (XLRP) are presented. Probe M27B (DXS255), localized to Xp11.22, was only loosely linked to XLRP, whereas pHOC3 (OTC), in the more distal Xp21.1 region, was tightly linked. In this family, the conditional probability of an RP3 locus (in Xp21.1-p11.4) was found to be 0.978 compared with 0.021 for an RP2 locus (in Xp11.4-p11.2). Risk assessment showed that 2 out of 4 "at risk" females showing no clinical abnormality have a high probability of being genetic carriers of XLRP. Some affected males have recurrent respiratory infections as a result of a condition indistinguishable from the immotile cilia syndrome; indeed, there is an association between XLRP and susceptibility to respiratory infections in the majority of affected males. The possibility that previously observed ciliary abnormalities in XLRP patients might be associated specifically with an RP3 locus abnormality is discussed.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00197269