MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM

@article{Vits1994MASASI,
  title={MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM},
  author={Lieve Vits and Guy Van Camp and Paul J Coucke and Erik Frans{\'e}n and Kristel De Boulle and Edwin Reyniers and Bernhard Korn and Annemarie Poustka and Golder N. Wilson and Connie Schrander-Stumpel and Robin Winter and Charles Walsh Schwartz and Patrick J. Willems},
  journal={Nature Genetics},
  year={1994},
  volume={7},
  pages={408-413}
}
MASA syndrome is a recessive X–linked disorder characterized by mental retardation, adducted thumbs, shuffling gait, aphasia and, in some cases, hydrocephalus. Since it has been shown that X–linked hydrocephalus can be caused by mutations in L1CAM, a neuronal cell adhesion molecule, we performed an L1CAM mutation analysis in eight unrelated patients with MASA syndrome. Three different L1CAM mutations were identified: a deletion removing part of the open reading frame and two point mutations… CONTINUE READING
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