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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.

SUBMITTER: Aldred MA 

PROVIDER: S-EPMC1918325 | biostudies-other | 1994 Nov

REPOSITORIES: biostudies-other

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

Aldred M A MA   Dry K L KL   Knight-Jones E B EB   Hardwick L J LJ   Teague P W PW   Lester D H DH   Brown J J   Spowart G G   Carothers A D AD   Raeburn J A JA  

American journal of human genetics 19941101 5

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  ...[more]