Case Report: A novelheterozygous truncating mutation inidentified in a Chinese autistic boy

Source: PubMed Central Open Access, NCBI / U.S. National Library of Medicine

Background Autism spectrum disorder (ASD) is a highly heterogeneous neurodevelopmental disorder. A previous study by Nizon et al. indicated that some children with intellectual disability (ID) carryingmutations exhibited mild to moderate autistic features. However, the relationship betweenand ASD remains unclear. Case presentation Here we reported a male child with severe autistic features carrying a novelheterozygous truncating mutation of(NM_053002.5:c.586C>T, p.(Arg196Ter)). He was diagnosed with ASD according to ICD-11 and DSM-5 criteria. Clinical examination indicated that this child exhibited severe autistic features and several dysmorphic features, including a flat nasal bridge, bulbous nasal tip, thin upper lip, and triangular face. Magnetic resonance imaging (MRI) of the brain revealed an enlarged perivascular space in the right temporal lobe. Conclusion This case demonstrates that thisheterozygous truncating mutation inmay be involved in the development of ASD, and haploinsufficiency of MED12L may be associated with severe autistic features. Obvious clinical manifestations and dysmorphic features in this child with a truncating mutation inexpand the phenotypic spectrum of MED12L-related cases and warrant further functional studies to elucidate the relationship between MED12L and ASD.