L1CAM Mutation Web Page

L1CAM is a neuronal cell adhesion molecule with important functions in the development of the nervous system. The gene encoding L1CAM is located near the telomere of the long arm of the X chromosome at Xq28. Mutations in L1CAM can lead to L1 syndrome, an X-linked recessive disease with an incidence of one in every 30,000 males. The phenotypic spectrum includes X-linked Hydrocephalus, also referred to as Hydrocephalus due to Stenosis of the Aqueduct of Sylvius (HSAS, MIM #307000), MASA syndrome standing for Mental Retardation, Aphasia, Shuffling gait and Adducted thumbs (MIM #303350), X-linked complicated hereditary spastic paraplegia type 1 (SPG1, MIM # 303350) and X-linked complicated corpus callosum agenesis (X-linked ACC, MIM # 304100). Clinical variability is large between and sometimes within families.

Article: Vos YJ et al. Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis. J Med Genet 2010 47(3): 169-75

For review the reader is referred to:  L1 Syndrome. In : GeneReviews at GeneTests. Schrander-Stumpel C, Vos YJ (December 2010).

Curator: Yvonne Vos
Dept. of Genetics, University Medical Center Groningen, Groningen, The Netherlands

General remarks/ Disclaimer

  • This software and these data are provided to enhance knowledge. Since the amount of information is growing rapidly and it is important to researchers, clinicians and genetic counsellors to have access to these new data in a fast and simple way, the L1CAM Mutation Database is renewed.
  • Reference sequence used: NM_000425.3
  • Mutation nomenclature follows standard rules:  http://www.hgvs.org/mutnomen/
  • The classification of many of the variants is taken from scientific papers published by third parties, so the resposibility for the information remains with the respective authors, not with the curator.
  • If different classifications for one variant are published, all classifications are described.

Work on this database is financially supported by the department of genetics of the University Medical Center Groningen, the Netherlands

Last update: October 19, 2012