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Literature DB >> 8474107

Refining the genetic location of the gene for X linked hydrocephalus within Xq28.

M Jouet¹, E Feldman, J Yates, D Donnai, J Paterson, D Siggers, S Kenwrick.

Abstract

The most common inherited form of hydrocephalus, X linked hydrocephalus (HSAS), is characterised by mental retardation, adducted thumbs, and spastic paraplegia. Genetic analysis has mapped the locus for HSAS to subchromosomal band Xq28 within a region of approximately 2 megabases of DNA. In order to refine the location of the disease gene we have conducted genetic linkage analysis with Xq28 marker loci in four additional HSAS families. A lod score of 4.26 with polymorphic marker DXS52 (St14) confirms the linkage of HSAS to Xq28. Identification of a recombination event between the HSAS gene and Xq28 loci F8C and DXS605 (2-19) reduces the size of the interval likely to contain the disease locus to about 1.5 megabases, the distance between DXS605 and DXS52. The locus for neural cell adhesion molecule, L1CAM, maps within this interval and therefore represents a candidate gene for HSAS.

Entities: Disease Gene

Mesh：

Substances：
Genetic Markers

Year: 1993 PMID： 8474107 PMCID： PMC1016302 DOI： 10.1136/jmg.30.3.214

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

16 in total

1. MASA syndrome: further clinical delineation and chromosomal localisation.

Authors: R M Winter; K E Davies; M V Bell; S M Huson; M N Patterson
Journal: Hum Genet Date: 1989-07 Impact factor: 4.132

2. Report of the committee on linkage and gene order.

Authors: B Keats; J Ott; M Conneally
Journal: Cytogenet Cell Genet Date: 1989

3. An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A.

Authors: S C Kogan; M Doherty; J Gitschier
Journal: N Engl J Med Date: 1987-10-15 Impact factor: 91.245

4. Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

Authors: J Ott
Journal: Am J Hum Genet Date: 1974-09 Impact factor: 11.025

Refining the genetic location of the gene for X linked hydrocephalus within Xq28.

1. MASA syndrome: further clinical delineation and chromosomal localisation.

2. Report of the committee on linkage and gene order.

3. An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A.

4. Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

5. MASA syndrome: new clinical features and linkage analysis using DNA probes.

6. Strategies for multilocus linkage analysis in humans.

7. X-linked hydrocephalus: clinical heterogeneity at a single gene locus.

8. X-linked hydrocephalus.

9. Linkage studies of X-linked recessive spastic paraplegia using DNA probes.

10. Assignment of X-linked hydrocephalus to Xq28 by linkage analysis.

Review 1. X linked hydrocephalus and MASA syndrome.

2. Hydrocephalus and abnormal subcommissural organ in mice lacking presenilin-1 in Wnt1 cell lineages.

3. Discordant segregation of Xq28 markers and a mutation in the L1 gene in a family with X linked hydrocephalus.

Review 4. Congenital hydrocephalus: nosology and guidelines for clinical approach and genetic counselling.

5. Genetic heterogeneity in X-linked hydrocephalus: linkage to markers within Xq27.3.

6. Genotype-phenotype correlation in L1 associated diseases.

7. New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.

8. Detection of L1 CAM mutation in a male child with mental retardation.

9. A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS).