New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome
- Univ. of Cambridge (United Kingdom)
- Hopital d`Enfants de la Timone, Marseillas (United Kingdom); and others
The neural cell-adhesion molecule L1 is involved in intercellular recognition and neuronal migration in the CNS. Recently, we have shown that mutations in the gene encoding L1 are responsible for three related disorders; X-linked hydrocephalus, MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs) syndrome, and spastic paraplegia type I (SPG1). These three disorders represent a clinical spectrum that varies not only between families but sometimes also within families. To date, 14 independent L1 mutations have been reported and shown to be disease causing. Here we report nine novel L1 mutations in X-linked hydrocephalus and MASA-syndrome families, including the first examples of mutations affecting the fibronectin type III domains of the molecule. They are discussed in relation both to phenotypes and to the insights that they provide into L1 function. 39 refs., 5 figs., 3 tabs.
- OSTI ID:
- 91185
- Journal Information:
- American Journal of Human Genetics, Vol. 56, Issue 6; Other Information: PBD: Jun 1995
- Country of Publication:
- United States
- Language:
- English
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