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

    Research output: Contribution to journalArticle

    11 Citations (Scopus)

    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

    Fingerprint

    Retinitis Pigmentosa
    X Chromosome
    Carrier State
    Dystrophin
    Gene Deletion
    Genetic Markers
    Chromosome Aberrations
    Haplotypes
    Genes

    Cite this

    Aldred, M. A., Dry, K. L., Knight-Jones, E. B., Hardwick, L. J., Teague, P. W., Lester, D. H., ... 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.
    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. / Genetic analysis of a kindred with X-linked mental handicap and retinitis pigmentosa. In: American Journal of Human Genetics. 1994 ; Vol. 55, No. 5. pp. 916-22.
    @article{a5097587f7b94076bded0cba10115c11,
    title = "Genetic analysis of a kindred with X-linked mental handicap and retinitis pigmentosa",
    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.",
    author = "Aldred, {M A} and Dry, {K L} and Knight-Jones, {E B} and Hardwick, {L J} and Teague, {P W} and Lester, {D H} and J Brown and G Spowart and Carothers, {A D} and Raeburn, {J A}",
    year = "1994",
    month = "11",
    language = "English",
    volume = "55",
    pages = "916--22",
    journal = "American Journal of Human Genetics",
    issn = "0002-9297",
    publisher = "Cell Press",
    number = "5",

    }

    Aldred, MA, Dry, KL, Knight-Jones, EB, Hardwick, LJ, Teague, PW, Lester, DH, Brown, J, Spowart, G, Carothers, AD & Raeburn, JA 1994, 'Genetic analysis of a kindred with X-linked mental handicap and retinitis pigmentosa', American Journal of Human Genetics, vol. 55, no. 5, pp. 916-22.

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

    In: American Journal of Human Genetics, Vol. 55, No. 5, 11.1994, p. 916-22.

    Research output: Contribution to journalArticle

    TY - JOUR

    T1 - Genetic analysis of a kindred with X-linked mental handicap and retinitis pigmentosa

    AU - Aldred, M A

    AU - Dry, K L

    AU - Knight-Jones, E B

    AU - Hardwick, L J

    AU - Teague, P W

    AU - Lester, D H

    AU - Brown, J

    AU - Spowart, G

    AU - Carothers, A D

    AU - Raeburn, J A

    PY - 1994/11

    Y1 - 1994/11

    N2 - 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.

    AB - 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.

    M3 - Article

    VL - 55

    SP - 916

    EP - 922

    JO - American Journal of Human Genetics

    JF - American Journal of Human Genetics

    SN - 0002-9297

    IS - 5

    ER -

    Aldred MA, Dry KL, Knight-Jones EB, Hardwick LJ, Teague PW, Lester DH et al. Genetic analysis of a kindred with X-linked mental handicap and retinitis pigmentosa. American Journal of Human Genetics. 1994 Nov;55(5):916-22.