ArticleJournal of medical genetics1993
Refining the genetic location of the gene for X linked hydrocephalus within Xq28.
Article in Journal of medical genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.
- Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus: A Systematic Review and Meta-Analysis.JAMA network open · 2023Pooled it
- The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact.Fluids and barriers of the CNS · 2024Review
- X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant.Neurogenetics · 2021Article
- Hydrocephalus and abnormal subcommissural organ in mice lacking presenilin-1 in Wnt1 cell lineages.Brain research · 2011Article
- Detection of L1 CAM mutation in a male child with mental retardation.Indian journal of clinical biochemistry : IJCB · 2004Article
- A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS).Journal of medical genetics · 1998Article
- Genotype-phenotype correlation in L1 associated diseases.Journal of medical genetics · 1998Article
- Congenital hydrocephalus: nosology and guidelines for clinical approach and genetic counselling.European journal of pediatrics · 1998Review
- Discordant segregation of Xq28 markers and a mutation in the L1 gene in a family with X linked hydrocephalus.Journal of medical genetics · 1996Article
- X linked hydrocephalus and MASA syndrome.Journal of medical genetics · 1996Review
- New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.American journal of human genetics · 1995Article
- Genetic heterogeneity in X-linked hydrocephalus: linkage to markers within Xq27.3.American journal of human genetics · 1994Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
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.
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