Aliases: ADAMTS21, KNO2, MMCAT
Chromosome No: 16
Chromosome Band: 16q23.1
Genetic Category: Rare single gene variant-Syndromic
ASD Reports: 7
Recent Reports: 0
Annotated variants: 10
Associated CNVs: 6
Evidence score: 2
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Relevance to Autism
A homozygous missense variant in the ADAMTS18 gene (c.3235T>C; p.Cys1079Arg) was identified in a 30-year-old male patient with severe early-onset retinal dystrophy and a diagnosis of autism; his parents and unaffected brother were heterozygous for the variant (Peluso et al., 2013). Additional studies in this report determined that human ADAMTS18 containing the p.Cys1079Arg misssense variant failed to rescue aberrant CNS phenotype of ADAMTS18 knockout zebrafish, compared to wild-type human ADAMTS18.
Molecular Function
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may regulate hemostatic balance and function as a tumor suppressor. Homozygous mutations in this gene are responsible for microcornea with myopic chorioretinal atrophy and telecanthus (OMIM 615458).
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