To report a case of a male child with severe autistic features carrying a novel de novo heterozygous truncating mutation in MED12L and to explore the relationship between MED12L mutations and autism spectrum disorder (ASD).
Approach:
Case Presentation: A 6-year and 9-month-old boy diagnosed with ASD exhibited severe autistic features and dysmorphic traits. Genetic analysis revealed a novel truncating mutation in MED12L.
Key Findings:
The child carried a novel de novo heterozygous truncating mutation in MED12L (NM_053002.5:c.586C>T, p.(Arg196Ter)).
Clinical examination showed severe autistic features and dysmorphic features including a flat nasal bridge, bulbous nasal tip, thin upper lip, and triangular face.
MRI revealed an enlarged perivascular space in the right temporal lobe.
Interpretation:
Haploinsufficiency of MED12L may be associated with severe autistic features.
Limitations:
The study is based on a single case, limiting the generalizability of the findings.
Further functional studies are needed to elucidate the relationship between MED12L mutations and ASD.
Conclusion:
This case highlights the involvement of MED12L mutations in the development of ASD.
