ArticleJournal of molecular neuroscience : MN2016
A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS).
Article in Journal of molecular neuroscience : MN, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 17 citations in OpenAlex.
- The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact.Fluids and barriers of the CNS · 2024Review
- A novel splicing variation in L1CAM is responsible for recurrent fetal hydrocephalus.Molecular genetics & genomic medicine · 2023Article
- X-linked hydrocephalus genes: Their proximity to telomeres and high A + T content compared to Parkinson's disease.Experimental neurology · 2023Review
- Analysis of L1CAM gene mutation and imaging appearance in three Chinese families with L1 syndrome: Three case reports.Molecular genetics & genomic medicine · 2022Article
- Tsukushi proteoglycan maintains RNA splicing and developmental signaling network in GFAP-expressing subventricular zone neural stem/progenitor cells.Frontiers in cell and developmental biology · 2022Article
- Syndromic Hydrocephalus.Neurosurgery clinics of North America · 2022Review
- 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
- A new frameshift mutation in L1CAM producing X-linked hydrocephalus.Molecular genetics & genomic medicine · 2020Article
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
X-linked hydrocephalus (XLH) is a genetic disorder leading to a syndrome characterized by mental retardation, bilateral adducted thumbs, and spasticity of upper and lower limbs. In most cases, X-linked mutation leads to a defective activity of the neuronal cell adhesion molecule L1CAM (L1 cell adhesion molecule, OMIM 308840). Depending on mutations of L1CAM, four X-linked neurological syndromes have been described. These syndromes are very different albeit each one possesses marked variability. In the present study, we describe a novel L1CAM mutation in a 33-year-old woman reporting two voluntary terminations of pregnancy due to fetal hydrocephalus. The genetic analysis identified the potential splicing variant c.1267+5delG. When analyzed in vitro, this mutation produces the skipping of exon 10. The same mutation was confirmed in analyzing DNA from amniocytes from the second pregnancy, and ultrasound scan and autopsy confirmed the occurrence of a severe L1 syndrome. These data describe a novel L1 mutation which improves our understanding on genotype-phenotype correlation while confirming the importance of prenatal screening for L1CAM mutations.
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Registered trials
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