Aliases: CRS2, FPP, HOX8, MSH, PFM, PFM1
Chromosome No: 5
Chromosome Band: 5q35.2
Genetic Category: Rare single gene variant-Syndromic
ASD Reports: 2
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 5
Evidence score: 2
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Relevance to Autism
A de novo missense variant in the MSX2 gene was identified in an ASD proband from a simplex family from the ASD: Genomes to Outcome Study cohort (Yuen et al., 2017). Four variants in the MSX2 gene, including a de novo frameshift variant, were identified in Japanese patients presenting with neurodevelopmental disorders in Suzuki et al., 2020; three of these patients were diagnosed with either autism spectrum disorder or PDD-NOS, while the fourth presented with autistic traits.
Molecular Function
This gene encodes a member of the muscle segment homeobox gene family. The encoded protein is a transcriptional repressor whose normal activity may establish a balance between survival and apoptosis of neural crest-derived cells required for proper craniofacial morphogenesis. The encoded protein may also have a role in promoting cell growth under certain conditions and may be an important target for the RAS signaling pathways.
External Links
