COMPLETE CITATION
Citation and identifiers
Pulatov O, Nguyen W, Alvarez Vega D, Barros R. “A novel de novo missense variant in ASH1L associated with mild autism spectrum disorder and an uneven cognitive profile: a case report.” Journal of Medical Case Reports. 19:616 · doi:10.1186/s13256-025-05675-4.
- PubMed ID
- 41291913 ↗
RESEARCH QUESTION
What autism and neuropsychological features were reported in the individual with a de novo ASH1L missense variant, and how certain was the variant interpretation?
The single case described mild autism and an uneven cognitive profile with relative verbal strengths, while the missense variant remained a VUS and therefore could not establish causality.
INTERPRETATION BOUNDARY
Read the finding and limit together.
What this study supports
Reports a de novo missense variant with mild autism and an uneven neuropsychological profile, including relative verbal strengths.
What it cannot establish
Single case; the variant remained a VUS and cannot define pathogenicity or a missense-class severity rule.
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