X linked hydrocephalus and MASA syndrome are clinically related, neurological disorders with an X linked recessive mode of inheritance. Although originally described as distinct entities, their similarity has become apparent as the number of reported families has increased and a high degree of intra- and interfamilial variation in clinical signs noted for both disorders. Consideration of this clinical overlap together with finding that genes for both diseases map to the same chromosomal band (Xq28) led to the hypothesis that they were caused by mutation at the same locus. This was confirmed by identification of mutations in patients with X linked hydrocephalus and MASA syndrome within the gene for neural cell adhesion molecule L1. Here we review the clinical and genetic characteristics of these disorders and the underlying molecular defects in the L1 gene.
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