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Home > A. Molecular pathology > L1CAM


MIM.308840 Xq28

Friday 21 November 2003

Definition: L1CAM is a membrane-associated signalling molecule that is essential for proper CST development. L1cam is an enteric neural system-expressed gene.

L1CAM appears to act as a receptor in conjunction with neuropilin-1, transducing a signal from Sema3A that drives CST fibres dorsally as they cross the ventral medullary–cervical junction.


- L1CAM mutations

  • L1CAM mutations result in many CST fibres aborting prior to the decussation, with a few fibres projecting to ectopic spinal cord locations.
  • Mutations of the human L1CAM gene result in CST misdevelopment and a clinically variable phenotype that includes a spastic, uncoordinated gait.

- L1CAM germline mutations in

  • X-linked hydrocephalus (MIM.307000)
  • MASA syndrome (MIM.303350)
  • X-linked complicated spastic paraplegia type 1
  • X-linked agenesis of the corpus callosum
  • X-linked hydrocephalus by stenosis of the aqueduct of Sylvius (MIM.307000) and congenital idiopathic intestinal pseudoobstruction (MIM.300048)
  • X-linked hydrocephalus (MIM.307000) with Hirschsprung disease (MIM.142623)
  • Indeed, at least five different mutations in L1CAM have been identified in patients with hydrocephalus and HSCR. The question of L1CAM being a modifier gene in HSCR has been raised with no definitive answer given thus far.

- L1CAM as a Marker of an Aggressive Tumor Phenotype in Children with Juvenile Pilocytic Astrocytoma. (22811153)

  • Increased L1CAM expression correlated with Ki-67 index in JPA and a worsened PFS.
  • L1CAM expression appeared to be a more reliable independent prognostic factor for recurrence in children with JPAs compared with Ki67 index alone.


- L1CAM as a Marker of an Aggressive Tumor Phenotype in Children with Juvenile Pilocytic Astrocytoma. Kernagis D, Datto M, McLendon R, Grant GA. Neurosurgery. 2012 Aug;71(2):E565. PMID: 22811153

- Kenwrick S, Watkins A, De Angelis E. Neural cell recognition molecule L1: relating biological complexity to human disease mutations. Hum Mol Genet. 2000 Apr 12;9(6):879-86. PMID: 10767310

- Fransen E, Van Camp G, Vits L, Willems PJ. L1-associated diseases: clinical geneticists divide, molecular geneticists unite. Hum Mol Genet. 1997;6(10):1625-32. PMID: 9300653