LRFN5
Homo sapiens
Gene Name: leucine rich repeat and fibronectin type III domain containing 5
Aliases: C14orf146, DKFZp686G0210, FIGLER8, FLJ30803, SALM5
Chromosome No: 14
Chromosome Band: 14q21.1
Genetic Category: Genetic Association-Rare Single Gene variant-Functional
Aliases: C14orf146, DKFZp686G0210, FIGLER8, FLJ30803, SALM5
Chromosome No: 14
Chromosome Band: 14q21.1
Genetic Category: Genetic Association-Rare Single Gene variant-Functional
Summary Statistics:
ASD Reports: 7
Recent Reports: 2
Annotated variants: 7
Associated CNVs: 4
Evidence score: 2
ASD Reports: 7
Recent Reports: 2
Annotated variants: 7
Associated CNVs: 4
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Genetic association has been found between the LRFN5 gene and autism in two large cohorts (AGRE and ACC) of European ancestry and replicated in two other cohorts (CAP and CART) (Wang et al., 2009). A mutation that caused a 10-fold reduction in LRFN5 expression was found in a patient with autism (de Bruijn et al., 2010). In addition, a rare deletion in the LRFN5 gene has been identified with developmental delay and intellectual disability (Mikhail et al., 2011).
Molecular Function
Cell adhesion molecule that mediates homophilic cell-cell adhesion in a Ca2+-independent manner. Promotes neurite outgrowth in hippocampal neurons.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Common genetic variants on 5p14.1 associate with autism spectrum disorders.
ASD
Positive Association
A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social res...
ASD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Severe Progressive Autism Associated with Two de novo Changes: A 2.6-Mb 2q31.1 Deletion and a Balanced t(14;21)(q21.1;p11.2) Translocation with Lon...
ASD
Support
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnose...
Neurodevelopment disorder
Recent Recommendation
LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions
ASD
Recent Recommendation
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental...
DD
ID
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN145C002
intergenic_variant
rs7147817
Discovery cohort: 2165 participants from AGRE
Discovery
