CLN8
Homo sapiens
Gene Name: Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
Aliases: C8orf61, EPMR
Chromosome No: 8
Chromosome Band: 8p23.3
Genetic Category: Syndromic-Rare single gene variant
Associated Syndrome(s): Neuronal ceroid lipofuscinosis-8
Aliases: C8orf61, EPMR
Chromosome No: 8
Chromosome Band: 8p23.3
Genetic Category: Syndromic-Rare single gene variant
Associated Syndrome(s): Neuronal ceroid lipofuscinosis-8
Summary Statistics:
ASD Reports: 6
Recent Reports: 0
Annotated variants: 11
Associated CNVs: 8
Evidence score: 2
ASD Reports: 6
Recent Reports: 0
Annotated variants: 11
Associated CNVs: 8
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A missense variant in the CLN8 gene segregated with ASD in a multi-generational Japanese family consisting of a father diagnosed with PDD-NOS and three affected male offspring diagnosed with Asperger syndrome (Egawa et al., 2015).
Molecular Function
This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. Mutations in this gene are associated with progressive epilepsy with mental retardation (EMPR; OMIM 600143), which is a subtype of neuronal ceroid lipofuscinoses (NCL).
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Novel rare missense variations and risk of autism spectrum disorder: whole-exome sequencing in two families with affected siblings and a two-stage ...
ASD
Negative Association
Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Highly Cited
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.
Neuronal ceroid lipofuscinosis-8
