HELP     Sign In
Search

Relevance to Autism

A homozyous missense variant in the ACY1 gene (c.1057C>T; p.Arg353Cys) was identified in a patient with ACY1 deficiency who was diagnosed with autistic syndrome (Tylki-Szymanska et al., 2010). Autistic features have also been reported in other individuals with ACY1 deficiency (Sommer et al., 2011; Alessandri et al., 2018).

Molecular Function

This gene encodes a cytosolic, homodimeric, zinc-binding enzyme that catalyzes the hydrolysis of acylated L-amino acids to L-amino acids and an acyl group, and has been postulated to function in the catabolism and salvage of acylated amino acids. Mutations in this gene cause aminoacylase-1 deficiency (ACY1D) [MIM:609924], a metabolic disorder characterized by central nervous system defects and increased urinary excretion of N-acetylated amino acids.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Aminoacylase 1 deficiency associated with autistic behavior.
Aminoacylase 1 deficiency
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Four years follow up of ACY1 deficient patient and pedigree study.
Aminoacylase 1 deficiency
ID, autistic features
Support
Isolated mild intellectual disability expands the aminoacylase 1 phenotype spectrum.
Aminoacylase 1 deficiency
ID
Support
Aminoacylase I deficiency due to ACY1 mRNA exon skipping.
Aminoacylase 1 deficiency
ID
Support
The molecular basis of aminoacylase 1 deficiency.
Aminoacylase 1 deficiency
ID, autistic features
Support
Neurological findings in aminoacylase 1 deficiency.
Support
Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort.
ASD
Macrocephaly
Highly Cited
Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN573R001a 
 missense_variant 
 c.1057C>T 
 p.Arg353Cys 
 Familial 
 Both parents 
 Simplex 
 GEN573R002a 
 splice_site_variant 
 c.1001_1001+5del 
  
 Likely familial 
 Both parents 
 Unknown 
 GEN573R003a 
 missense_variant 
 c.699A>C 
 p.Glu233Asp 
 Familial 
 Maternal and paternal 
 Simplex 
 GEN573R003b 
 frameshift_variant 
 c.575dup 
 p.Ser192ArgfsTer64 
 Familial 
 Maternal and paternal 
 Simplex 
 GEN573R004a 
 missense_variant 
 c.1156C>T 
 p.Arg386Cys 
 Familial 
 Both parents 
 Simplex 
 GEN573R005a 
 missense_variant 
 c.1132C>T 
 p.Arg378Trp 
 Familial 
 Both parents 
 Simplex 
 GEN573R006a 
 missense_variant 
 c.1133G>A 
 p.Arg378Gln 
 Familial 
 Both parents 
 Simplex 
 GEN573R007 
 frameshift_variant 
 c.85_88del 
 p.Pro29ThrfsTer23 
 Familial 
 Maternal 
 Multiplex 
 GEN573R008 
 frameshift_variant 
 c.369dup 
 p.Ala124SerfsTer23 
 Familial 
 Maternal 
 Multiplex 
 GEN573R009 
 frameshift_variant 
 c.575dup 
 p.Ser192ArgfsTer64 
 Familial 
 Paternal 
 Multiplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Deletion
 1
 
3
Duplication
 1
 

No Animal Model Data Available

 

No Interactions Available
HELP
Copyright © 2017 MindSpec, Inc.