X-LINKED SPASTIC PARAPLEGIA (SPG1), MASA SYNDROME AND X-LINKED HYDROCEPHALUS RESULT FROM MUTATIONS IN THE L1 GENE

Citation
M. Jouet et al., X-LINKED SPASTIC PARAPLEGIA (SPG1), MASA SYNDROME AND X-LINKED HYDROCEPHALUS RESULT FROM MUTATIONS IN THE L1 GENE, Nature genetics, 7(3), 1994, pp. 402-407
Citations number
43
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
10614036
Volume
7
Issue
3
Year of publication
1994
Pages
402 - 407
Database
ISI
SICI code
1061-4036(1994)7:3<402:XSP(MS>2.0.ZU;2-C
Abstract
X-linked hydrocephalus, spastic paraplegia type I and MASA syndrome ar e related disorders with loci in subchromosomal region Xq28. We have p reviously shown that X-linked hydrocephalus is caused by mutations in the gene for neural cell adhesion molecule L1 (L1CAM), an axonal glyco protein involved in neuronal migration and differentiation. Here we re port mutations of the L1 gene in MASA syndrome and SPG1, in addition t o HSAS families. Two of the HSAS mutations would abolish cell surface expression of L1 and represent the first functional null mutations in this disorder. Our results indicate that these three syndromes form pa rt of a clinical spectrum resulting from a heterogeneous group of muta tions in the L1 gene.