ADSL
Homo sapiens
Gene Name: adenylosuccinate lyase
Aliases:
Chromosome No: 22
Chromosome Band: 22q13.1
Genetic Category: Rare Single Gene variant-Syndromic
Associated Syndrome(s): Adenylosuccinase deficiency
Aliases:
Chromosome No: 22
Chromosome Band: 22q13.1
Genetic Category: Rare Single Gene variant-Syndromic
Associated Syndrome(s): Adenylosuccinase deficiency
Summary Statistics:
ASD Reports: 9
Recent Reports: 1
Annotated variants: 10
Associated CNVs: 6
Evidence score: 2
ASD Reports: 9
Recent Reports: 1
Annotated variants: 10
Associated CNVs: 6
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
This gene has been associated with syndromic autism, where a subpopulation of individuals with a given syndrome develop autism. Rare mutations in the ADSL gene have been found. For example, one study (Sivendran et al., 2004) found an autistic individual with two heterozygous ADSL mutations.
Molecular Function
The encoded protein mediates de novo synthesis of purines and formation of adenosine monophosphate from inosine monophosphate.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Two novel mutant human adenylosuccinate lyases (ASLs) associated with autism and characterization of the equivalent mutant Bacillus subtilis ASL.
ASD
Support
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
DD
Epilepsy/seizures
Support
Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice.
DD, epilepsy/seizures
Developmental regression
Support
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
DD, ID
Support
Autism spectrum disorder and comorbid neurodevelopmental disorders (ASD-NDDs): Clinical and genetic profile of a pediatric cohort
ASD
DD, ID
Highly Cited
An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids.
Adenylosuccinase deficiency
Autism, psychomotor delay
Highly Cited
A mutation in adenylosuccinate lyase associated with mental retardation and autistic features.
ID
Autistic features
Recent Recommendation
Inhibition of defective adenylosuccinate lyase by HNE: a neurological disease that may be affected by oxidative stress.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN005R003a
missense_variant
c.1288G>A
p.Asp430Asn
Familial
Both parents
Multiplex
GEN005R005a
missense_variant
c.1277G>A
p.Arg426His
Familial
Both parents
Multiplex
Common
No Common Variants Available
