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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    11 Citations (Scopus)


    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
    Issue number5
    Publication statusPublished - Nov 1994


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