Genetic analysis of a kindred with X-linked mental handicap and retinitis pigmentosa

M A Aldred, K L Dry, E B Knight-Jones, L J Hardwick, P W Teague, D H Lester, J Brown, G Spowart, A D Carothers, J A Raeburn

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    Abstract

    A kindred is described in which X-linked nonspecific mental handicap segregates together with retinitis pigmentosa. Carrier females are mentally normal but may show signs of the X-linked retinitis pigmentosa carrier state and become symptomatic in their later years. Analysis of polymorphic DNA markers at nine loci on the short arm of the X chromosome shows that no crossing-over occurs between the disease and Xp11 markers DXS255, TIMP, DXS426, MAOA, and DXS228. The 90% confidence limits show that the locus is in the Xp21-q21 region. Haplotype analysis is consistent with the causal gene being located proximal to the Xp21 loci DXS538 and 5'-dystrophin on the short arm of the X chromosome. The posterior probability of linkage to the RP2 region of the X chromosome short arm (Xp11.4-p11.23) is .727, suggesting the possibility of a contiguous-gene-deletion syndrome. No cytogenetic abnormality has been identified.

    Original languageEnglish
    Pages (from-to)916-22
    Number of pages7
    JournalAmerican Journal of Human Genetics
    Volume55
    Issue number5
    Publication statusPublished - Nov 1994

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  • Cite this

    Aldred, M. A., Dry, K. L., Knight-Jones, E. B., Hardwick, L. J., Teague, P. W., Lester, D. H., Brown, J., Spowart, G., Carothers, A. D., & Raeburn, J. A. (1994). Genetic analysis of a kindred with X-linked mental handicap and retinitis pigmentosa. American Journal of Human Genetics, 55(5), 916-22. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1918325/