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Article

Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome.

European journal of medical genetics - 1 Jan 2000

Shaw Marie, Yap Tzu Ying, Henden Lyndal, Bahlo Melanie, Gardner Alison, Kalscheuer Vera M, Haan Eric, Christie Louise, Hackett Anna, Gecz Jozef

Abstract excerpt

Mutations in the L1 Cell Adhesion Molecule (L1CAM) gene (MIM#308840) cause a variety of X-linked recessive neurological disorders collectively called L1 syndrome. Using massively parallel sequencing (MPS) of the X-chromosome exome, we identified a novel missense variant in L1CAM in two Caucasian families with mild-moderate intellectual disability without obvious L1 syndrome features. These families were not known...

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Share to Genetic Diseases, X-Linked
Share to Intellectual Disability

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Neural Cell Adhesion Molecule L1

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Share to Polymorphism, Single Nucleotide

Share to Spastic Paraplegia, Hereditary

Source

Identifiers

PMID: 25934484
DOI: 10.1016/j.ejmg.2015.04.004

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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