Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing.

doi:10.1002/humu.9242

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Article

Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing.

Human mutation - 1 May 2004

Hübner Christian A, Utermann Barbara, Tinschert Sigrid, Krüger Gabriele, Ressler Bernadette, Steglich Cordula, Schinzel Albert, Gal Andreas

Abstract excerpt

L1 disease is a clinically heterogeneous X-chromosomal neurodevelopmental disorder that is frequently associated with mental retardation and congenital hydrocephalus in males. It is caused by mutations in L1CAM that encodes a multifunctional transmembrane neuronal cell adhesion molecule. We report our findings on 6 novel intronic L1CAM sequence variants (c.523+5G>A, c.1123+1G>A, c.1547-13delC, c.3323-17dupG,...

Topics

Base Sequence
DNA Mutational Analysis
Female
Genetic Diseases, X-Linked
Humans
Hydrocephalus
Infant
Introns
Male
Molecular Sequence Data
Mutation
Neural Cell Adhesion Molecule L1
Pedigree
RNA Splicing

Source

Open in PubMed

Identifiers

PMID: 15108295
DOI: 10.1002/humu.9242

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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