Non‐allelic mutations in X‐linked retinitis pigmentosa

Chen, J. D.; Dickinson, Pamela; Gray, R. G. F.; Constable, Ian; Sheffield, Leslie J.; Denton, M. J.

doi:10.1111/j.1399-0004.1989.tb02954.x

Cited by 7 publications

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References 10 publications

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“…Linkage analysis in families with XLRP has shown conflicting results regarding the location of the disease locus, suggestive of heterogeneity. Taken together, several reports have produced results indicating two loci on the short arm of the X-chromosome (Nussbaum et al 1985, Wright et al 1987, Denton et al 1988, Wirth et al 1988, Chen et al 1989a, 1989b. for a review see Humphries et a].…”

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confidence: 90%

Genetic mapping of loci for X‐linked retinitis pigmentosa

et al. 1991

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Linkage analysis was performed in three Swedish families segregating for X‐linked retinitis pigmentosa (XLRP), using five polymorphic DNA markers assigned to Xp. Individual recombination events were analyzed and two‐ and five‐point linkage analysis was undertaken. In one family, a XLRP locus was mapped to the same position as OTC corresponding to RP3. In two families, a disease locus linked to OTC was excluded. In one family, recombination events indicate a locus for XLRP outside the interval (DXS84‐OTC‐DXS255‐DXS14), most likely on the centromeric side of DXS14.

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confidence: 90%

Genetic mapping of loci for X‐linked retinitis pigmentosa

et al. 1991

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Clinical and genetic heterogeneity in retinitis pigmentosa

et al. 1990

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The clinical course of defective vision and blindness has been investigated in relation to different modes of genetic transmission in a large series of 93 families with retinitis pigmentosa (RP). For autosomal dominant RP, two clinical subtypes could be distinguished according to the delay in macular involvement. In the severe form, macular involvement occurred within 10 years, while in the mild form, macular involvement occurred after 20 years. Interestingly, a significant increase of mean paternal age (38.8 years, mean controls in France = 29.1 years, P less than 0.001) was found in this form of RP, a feature which is suggestive of new mutations. For autosomal recessive RP, four significantly different clinical subtypes could be recognized, according to both age of onset and the pattern of development (P less than 0.001), namely cone-rod dystrophy and early-onset severe forms on the one hand (mean age of onset = 7.6 years), late-onset mild forms and senile forms on the other. Similarly, two significantly different clinical subtypes could be recognized in X-linked RP, according to both mode and age of onset, which were either myopia (mean age = 3.5 +/- 0.5 years) or night blindness (mean age = 10.6 +/- 4.1 years. P less than 0.001). By contrast, no difference was noted regarding the clinical course of the disease, which was remarkably severe whatever the clinical subtype (blindness before 25 years). In addition, all obligate carriers in our series were found to have either severe myopia or pigment deposits in their peripheral retina. Finally, sporadic RP represented the majority of cases in our series (42%). There was a considerable heterogeneity in this group, and at least three clinical forms could be recognized, namely cone-rod dystrophy, early onset-severe forms and late onset moderate forms. At the beginning of the disease, the hereditary nature of the sporadic forms was very difficult to ascertain (especially between 7-10 years) and only the clinical course could possibly provide information regarding the mode of inheritance. However, the high level of consanguinity, and the high sex ratio in early onset and severe sporadic forms (including cone-rod dystrophy), was suggestive of an autosomal or X-linked recessive inheritance, while increased paternal age in late onset forms was suggestive of autosomal dominant mutations.

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