ArticleJournal of medical genetics1996
Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.
Article in Journal of medical genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 27 citations in OpenAlex.
- The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact.Fluids and barriers of the CNS · 2024Review
- Article
- Prenatal diagnosis of a nonsense mutation in the L1CAM gene resulting in congenital hydrocephalus: A case report and literature review.Experimental and therapeutic medicine · 2021Article
- X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant.Neurogenetics · 2021Article
- Relationships between gene expression and brain wiring in the adult rodent brain.PLoS computational biology · 2011Article
- Cloning and expression of a zebrafish SCN1B ortholog and identification of a species-specific splice variant.BMC genomics · 2007Article
- The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus.Journal of medical genetics · 1998Article
- Genotype-phenotype correlation in L1 associated diseases.Journal of medical genetics · 1998Article
- CRASH syndrome: mutations in L1CAM correlate with severity of the disease.Neuropediatrics · 1997Article
- Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders.The EMBO journal · 1996Article
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Five novel mutations have been identified in the gene encoding L1CAM, a neural cell adhesion protein, in families with X linked hydrocephalus (XHC). Interestingly, all five mutations are in the evolutionarily highly conserved Ig-like domains of the protein. The two frameshift mutations (52insC and 955delG) and the nonsense mutation (Trp276Ter) most probably result in functional null alleles and complete absence of L1CAM at the cell surface. The two missense mutations (Tyr194Cys and Pro240Leu) may considerably alter the structure of the L1CAM protein. These data provide convincing evidence that XHC is genetically extremely heterogeneous.
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Registered trials
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