Search tips
Search criteria 


Logo of jmedgeneJournal of Medical GeneticsCurrent TOCInstructions for authors
J Med Genet. Jan 1996; 33(1): 59–65.
PMCID: PMC1051814
X linked hydrocephalus and MASA syndrome.
S Kenwrick, M Jouet, and D Donnai
University of Cambridge Department of Medicine, Addenbrooke's Hospital, UK.
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.
Full text
Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (1.8M), or click on a page image below to browse page by page.
Images in this article
Click on the image to see a larger version.
Articles from Journal of Medical Genetics are provided here courtesy of
BMJ Group