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

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 language	English
Pages (from-to)	916-22
Number of pages	7
Journal	American Journal of Human Genetics
Volume	55
Issue number	5
Publication status	Published - Nov 1994

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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.

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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",

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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

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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.

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EP - 922

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1918325/