LAMC3
Homo sapiens
Gene Name: laminin, gamma 3
Aliases:
Chromosome No: 9
Chromosome Band: 9q34.12
Genetic Category: Rare Single Gene variant
Aliases:
Chromosome No: 9
Chromosome Band: 9q34.12
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 12
Recent Reports: 2
Annotated variants: 28
Associated CNVs: 9
Evidence score: 3
ASD Reports: 12
Recent Reports: 2
Annotated variants: 28
Associated CNVs: 9
Evidence score: 3
| Associated Disorders: |
|
Relevance to Autism
A rare mutation in the LAMC3 gene has been identified with autism (O'Roak et al., 2011). In particular, that study found a de novo missense (Asp399Gly) mutation which was predicted to be functional in a single individual with ASD. In addition, the LAMC3 gene has been implicated in cerebral cortex development (Barak et al., 2011).
Molecular Function
Mediates the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
ASD
Support
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
ASD
Support
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
Epilepsy/seizures
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
ASD
Support
De novo genic mutations among a Chinese autism spectrum disorder cohort.
ASD
Support
Comprehensive molecular testing in patients with high functioning autism spectrum disorder.
ASD
Support
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
ASD
Highly Cited
Structural analysis and mutation detection strategy for the human LAMC3 gene.
Recent Recommendation
Recessive LAMC3 mutations cause malformations of occipital cortical development.
Recent Recommendation
Defective formation of the inner limiting membrane in laminin beta2- and gamma3-null mice produces retinal dysplasia.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN144R001a
frameshift_variant
c.903_904del
p.Cys301Ter
Familial
Both parents
Simplex
GEN144R008
frameshift_variant
c.2354del
p.Arg785ProfsTer99
Familial
Maternal
Simplex
GEN144R012
missense_variant
c.4565C>T
p.Pro1522Leu
Familial
Maternal
Simplex
GEN144R021
frameshift_variant
c.242del
p.Asp81AlafsTer44
Familial
Paternal
Multiplex
GEN144R022
frameshift_variant
c.1866dup
p.Phe623LeufsTer31
Familial
Maternal
Multiplex
GEN144R024b
frameshift_variant
c.1852_1882del
p.Pro618SerfsTer5
Familial
Paternal
Simplex
Common
No Common Variants Available
