ADSS2adenylosuccinate synthase 2
Autism Reports / Total Reports
3 / 3Rare Variants / Common Variants
2 / 0Aliases
ADSS2, ADEH, ADSS, ADSS 2Associated Syndromes
-Chromosome Band
1q44Associated Disorders
-Relevance to Autism
A de novo splice-site variant in the ADSS2 gene (formerly known as ADSS) was identified in an ASD proband from the Autism Sequencing Consortium in De Rubeis et al., 2014, while a de novo missense variant in this gene was identified in a Canadian ASD proband in Tammimies et al., 2015. TADA analysis of 4,504 ASD trios and 3,012 unaffected control/siblings trios from trio-based exome/genome sequencing studies identified ADSS2 as an ASD candidate gene with a q-value < 0.1 (Du et al., 2019).
Molecular Function
This gene encodes the enzyme adenylosuccinate synthetase which catalyzes the first committed step in the conversion of inosine monophosphate to adenosine monophosphate.
Reports related to ADSS2 (3 Reports)
| # | Type | Title | Author, Year | Autism Report | Associated Disorders |
|---|---|---|---|---|---|
| 1 | Primary | Synaptic, transcriptional and chromatin genes disrupted in autism | De Rubeis S , et al. (2014) | Yes | - |
| 2 | Support | Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder | Tammimies K , et al. (2015) | Yes | - |
| 3 | Recent Recommendation | Nonrandom occurrence of multiple de novo coding variants in a proband indicates the existence of an oligogenic model in autism | Du Y , et al. (2019) | Yes | - |
Rare Variants (2)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| c.664-1G>T | p.? | splice_site_variant | De novo | - | - | 25363760 | De Rubeis S , et al. (2014) | |
| c.527G>A | p.Arg176Gln | missense_variant | De novo | - | - | 26325558 | Tammimies K , et al. (2015) |
Common Variants
No common variants reported.
SFARI Gene score
Strong Candidate
A de novo splice-site variant in the ADSS2 gene (formerly known as ADSS) was identified in an ASD proband from the Autism Sequencing Consortium in De Rubeis et al., 2014, while a de novo missense variant in this gene was identified in a Canadian ASD proband in Tammimies et al., 2015. TADA analysis of 4,504 ASD trios and 3,012 unaffected control/siblings trios from trio-based exome/genome sequencing studies identified ADSS2 as an ASD candidate gene with a q-value < 0.1 (Du et al., 2019).
Score Delta: Score remained at 2
criteria met
See SFARI Gene'scoring criteriaWe considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.
4/1/2022
Decreased from 3 to 2
Description
A de novo splice-site variant in the ADSS2 gene (formerly known as ADSS) was identified in an ASD proband from the Autism Sequencing Consortium in De Rubeis et al., 2014, while a de novo missense variant in this gene was identified in a Canadian ASD proband in Tammimies et al., 2015. TADA analysis of 4,504 ASD trios and 3,012 unaffected control/siblings trios from trio-based exome/genome sequencing studies identified ADSS2 as an ASD candidate gene with a q-value < 0.1 (Du et al., 2019).
10/1/2019
Decreased from 4 to 3
New Scoring Scheme
Description
A de novo splice-site variant in the ADSS2 gene (formerly known as ADSS) was identified in an ASD proband from the Autism Sequencing Consortium in De Rubeis et al., 2014, while a de novo missense variant in this gene was identified in a Canadian ASD proband in Tammimies et al., 2015. TADA analysis of 4,504 ASD trios and 3,012 unaffected control/siblings trios from trio-based exome/genome sequencing studies identified ADSS2 as an ASD candidate gene with a q-value < 0.1 (Du et al., 2019).
Reports Added
[New Scoring Scheme]7/1/2019
Increased from to 4
Description
A de novo splice-site variant in the ADSS2 gene (formerly known as ADSS) was identified in an ASD proband from the Autism Sequencing Consortium in De Rubeis et al., 2014, while a de novo missense variant in this gene was identified in a Canadian ASD proband in Tammimies et al., 2015. TADA analysis of 4,504 ASD trios and 3,012 unaffected control/siblings trios from trio-based exome/genome sequencing studies identified ADSS2 as an ASD candidate gene with a q-value < 0.1 (Du et al., 2019).