CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1
- PMID: 8556302
- DOI: 10.1159/000472311
CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1
Erratum in
- Eur J Hum Genet 1996;4(2):126
Abstract
L1 is a neuronal cell adhesion molecule with important functions in the development of the nervous system. The gene encoding L1 is located near the telomere of the long arm of the X chromosome in Xq28. We review here the evidence that several X-linked mental retardation syndromes including X-linked hydrocephalus (HSAS), MASA syndrome, X-linked complicated spastic paraparesis (SP1) and X-linked corpus callosum agenesis (ACC) are all due to mutations in the L1 gene. The inter- and intrafamilial variability in families with an L1 mutation is very wide, and patients with HSAS, MASA, SP1 and ACC can be present within the same family. Therefore, we propose here to refer to this clinical syndrome with the acronym CRASH, for Corpus callosum hypoplasia, Retardation, Adducted thumbs, Spastic paraplegia and Hydrocephalus.
Similar articles
-
Genotype-phenotype correlation in L1 associated diseases.J Med Genet. 1998 May;35(5):399-404. doi: 10.1136/jmg.35.5.399. J Med Genet. 1998. PMID: 9610803 Free PMC article.
-
CRASH syndrome: mutations in L1CAM correlate with severity of the disease.Neuropediatrics. 1997 Jun;28(3):175-8. doi: 10.1055/s-2007-973696. Neuropediatrics. 1997. PMID: 9266556 Free PMC article.
-
L1-associated diseases: clinical geneticists divide, molecular geneticists unite.Hum Mol Genet. 1997;6(10):1625-32. doi: 10.1093/hmg/6.10.1625. Hum Mol Genet. 1997. PMID: 9300653 Review.
-
Novel missense mutation in the L1 gene in a child with corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus.J Child Neurol. 2000 Apr;15(4):239-43. doi: 10.1177/088307380001500407. J Child Neurol. 2000. PMID: 10805190
-
Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene.Hum Mutat. 2001;18(1):1-12. doi: 10.1002/humu.1144. Hum Mutat. 2001. PMID: 11438988 Review.
Cited by
-
Male-biased aganglionic megacolon in the TashT mouse model of Hirschsprung disease involves upregulation of p53 protein activity and Ddx3y gene expression.PLoS Genet. 2020 Sep 8;16(9):e1009008. doi: 10.1371/journal.pgen.1009008. eCollection 2020 Sep. PLoS Genet. 2020. PMID: 32898154 Free PMC article.
-
The role of endocytosis in regulating L1-mediated adhesion.J Biol Chem. 2001 Jan 12;276(2):1285-90. doi: 10.1074/jbc.M006658200. J Biol Chem. 2001. PMID: 11035015 Free PMC article.
-
The Interactions of the 70 kDa Fragment of Cell Adhesion Molecule L1 with Topoisomerase 1, Peroxisome Proliferator-Activated Receptor γ and NADH Dehydrogenase (Ubiquinone) Flavoprotein 2 Are Involved in Gene Expression and Neuronal L1-Dependent Functions.Int J Mol Sci. 2023 Jan 20;24(3):2097. doi: 10.3390/ijms24032097. Int J Mol Sci. 2023. PMID: 36768419 Free PMC article.
-
Effects of ethanol and NAP on cerebellar expression of the neural cell adhesion molecule L1.PLoS One. 2011;6(9):e24364. doi: 10.1371/journal.pone.0024364. Epub 2011 Sep 8. PLoS One. 2011. PMID: 21931691 Free PMC article.
-
Schwann cell interactions during the development of the peripheral nervous system.Dev Neurobiol. 2021 Jul;81(5):464-489. doi: 10.1002/dneu.22744. Epub 2020 May 5. Dev Neurobiol. 2021. PMID: 32281247 Free PMC article. Review.
Publication types
MeSH terms
Substances
Grants and funding
LinkOut - more resources
Full Text Sources
Other Literature Sources
Molecular Biology Databases
