New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome

Journal Article · Thu Jun 01 04:00:00 EDT 1995 · American Journal of Human Genetics

OSTI ID:91185

Jouet, M; Kenwick, S ^[1]; Moncla, A ^[2]

---

1. Univ. of Cambridge (United Kingdom)
2. 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, Journal Name: American Journal of Human Genetics Journal Issue: 6 Vol. 56; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
AMINO ACIDS
DNA SEQUENCING
GENE MUTATIONS
GENES
HEREDITARY DISEASES
HUMAN CHROMOSOMES
HUMAN POPULATIONS
HUMAN X CHROMOSOME
NERVOUS SYSTEM DISEASES
PHENOTYPE
POLYMERASE CHAIN REACTION
PROTEINS
STRUCTURE-ACTIVITY RELATIONSHIPS