ArticleMolecular genetics & genomic medicine2020
A new frameshift mutation in L1CAM producing X-linked hydrocephalus.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 10 citations in OpenAlex.
- The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact.Fluids and barriers of the CNS · 2024Review
- 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
- 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
- Review
- A new frameshift mutation in L1CAM producing X-linked hydrocephalus.Molecular genetics & genomic medicine · 2020Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
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Abstract
backgroundX-linked hydrocephalus (XLH), characterized by mental retardation and bilateral adducted thumbs, often come out to be a genetic disorder of L1CAM. It codes the protein L1 cell adhesion molecule (L1CAM), playing a crucial role in the development of the nervous system. The objective of the study was to report a new disease-causing mutation site of L1CAM, and gain further insight into the pathophysiology of hydrocephalus.
methodsWe collect the samples of a couple and their second hydrocephalic fetus. Then, the whole-exome sequencing and in-depth mutation analysis were performed.
resultsThe variant c.2491delG (p.V831fs), located in the exon 19 of L1CAM (chrX:153131214), could damage the L1CAM function by producing a frameshift in the translation of fibronectin type-III of L1CAM.
conclusionWe identified a novel disease-causing mutation in L1CAM for the first time, which further confirmed L1CAM as a gene underlying XLH cases.
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