|
MASA SYNDROME (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The hemizygous L1CAM variant p.G452R, previously implicated in patients with L1 syndrome, was identified in patient 5, who presented with antenatal hydrocephalus.
|
31504653 |
2019 |
|
MASA SYNDROME (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We combined clinical data, in silico effect predictions and functional analysis of four L1CAM variants, p.I37N, p.T38M, p.M172I and p.D202Y, located to the two N-terminal Ig-like domains present in five families with symptoms of L1 syndrome.
|
26891472 |
2017 |
|
MASA SYNDROME (disorder)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We combined clinical data, in silico effect predictions and functional analysis of four L1CAM variants, p.I37N, p.T38M, p.M172I and p.D202Y, located to the two N-terminal Ig-like domains present in five families with symptoms of L1 syndrome.
|
26891472 |
2017 |
|
MASA SYNDROME (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Using massively parallel sequencing (MPS) of the X-chromosome exome, we identified a novel missense variant in L1CAM in two Caucasian families with mild-moderate intellectual disability without obvious L1 syndrome features.
|
25934484 |
2016 |
|
MASA SYNDROME (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Three cases with L1 syndrome and two novel mutations in the L1CAM gene.
|
25948108 |
2015 |
|
MASA SYNDROME (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Based on the presentation of the proband and other reported patients with whole gene deletions, we provide further evidence that L1CAM whole gene deletions result in L1 syndrome with a severe phenotype, deletions of PDZD4 do not cause additional manifestations, and that X-linked nephrogenic diabetes insipidus reported in a subset of patients with large L1CAM deletions results from the loss of AVPR2.
|
24668863 |
2014 |
|
MASA SYNDROME (disorder)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Differential effects of human L1CAM mutations on complementing guidance and synaptic defects in Drosophila melanogaster.
|
24155914 |
2013 |
|
MASA SYNDROME (disorder)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The variable effects observed with the different L1CAM mutants suggest that this function contributes to the marked heterogeneity of symptoms and severity observed in the patients affected by the L1 syndrome.
|
22973895 |
2013 |
|
MASA SYNDROME (disorder)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Association of X-linked hydrocephalus and Hirschsprung disease: report of a new patient with a mutation in the L1CAM gene.
|
22344793 |
2012 |
|
MASA SYNDROME (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The poly-ubiquitination of L1-W635C and its association with the ER chaperone calnexin provide further insights into the molecular mechanisms underlying defective cell surface trafficking of L1CAM in L1 syndrome.
|
22222883 |
2012 |
|
MASA SYNDROME (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations in the L1CAM gene support the complexity of L1 syndrome.
|
20447653 |
2010 |
|
MASA SYNDROME (disorder)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
To develop a comprehensive mutation analysis system with a high rate of detection, to develop a tool to predict the chance of detecting a mutation in the L1CAM gene, and to look for genotype-phenotype correlations in the X-linked recessive disorder, L1 syndrome.
|
19846429 |
2010 |
|
MASA SYNDROME (disorder)
|
1.000 |
Biomarker
|
disease |
CLINGEN |
To develop a comprehensive mutation analysis system with a high rate of detection, to develop a tool to predict the chance of detecting a mutation in the L1CAM gene, and to look for genotype-phenotype correlations in the X-linked recessive disorder, L1 syndrome.
|
19846429 |
2010 |
|
MASA SYNDROME (disorder)
|
1.000 |
Biomarker
|
disease |
CLINGEN |
A modifier locus on chromosome 5 contributes to L1 cell adhesion molecule X-linked hydrocephalus in mice.
|
19565280 |
2010 |
|
MASA SYNDROME (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human L1CAM gene cause neurodevelopmental disorders collectively referred to as L1 syndrome.
|
20621658 |
2010 |
|
MASA SYNDROME (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
These results indicate that the L1 syndrome-associated phenotype might involve the disruption of L1-CAM's functions at different levels.
|
19617634 |
2009 |
|
MASA SYNDROME (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the X-chromosomal gene (L1CAM) for cell adhesion molecule L1 are associated with a heterogeneous group of conditions that include agenesis of the corpus callosum, hydrocephalus, spastic paraplegia, adducted thumbs and mental retardation (L1-spectrum disease, CRASH or MASA syndrome).
|
17294222 |
2007 |
|
MASA SYNDROME (disorder)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel missense mutation in the L1CAM gene in a boy with L1 disease.
|
16816908 |
2006 |
|
MASA SYNDROME (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The L1CAM loss-of-function mutations cause a severe form of L1 syndrome, unlike the milder form produced by mutations in the L1CAM cytoplasmic domain.
|
17328266 |
2006 |
|
MASA SYNDROME (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
First case of L1CAM gene mutation identified in MASA syndrome in Asia.
|
15904436 |
2005 |
|
MASA SYNDROME (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
X-linked hydrocephalus, HSAS (hydrocephalus due to stenosis of aqueduct of Sylvius), MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs), and CRASH (corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus) syndromes are allelic disorders.
|
15662685 |
2005 |
|
MASA SYNDROME (disorder)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?
|
11857550 |
2002 |
|
MASA SYNDROME (disorder)
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene.
|
11438988 |
2001 |
|
MASA SYNDROME (disorder)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Novel missense mutation in the L1 gene in a child with corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus.
|
10805190 |
2000 |
|
MASA SYNDROME (disorder)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease.
|
10797421 |
2000 |