Discover Mental Health · 3 authors, 1 centre
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This narrative review with original case reports examines the association between dystrophin gene loss-of-function variants and autism spectrum disorder (ASD) in patients with Duchenne and Becker muscular dystrophies. The authors present WES data from four families and propose a complex, heterogeneous genetic architecture for ASD in dystrophinopathies, involving rare variants of large and medium effect beyond the dystrophin gene itself.
This narrative review synthesizes literature on ASD prevalence in dystrophinopathies and reports four new families with ASD-DMD/BMD patients, including monozygotic twins discordant and concordant for ASD, and non-identical ASD triplets. Whole exome sequencing in these individuals, together with published data, suggests a complex genetic architecture for ASD in dystrophinopathies that may include rare variants of large and medium effect at multiple loci. Two unrelated individuals ascertained for ASD harbored rare dystrophin variants poorly characterized in the literature, suggesting some variants may preferentially compromise brain function. The authors note that both long and short dystrophin isoforms appear relevant to the ASD phenotype, unlike what has been observed for intellectual disability alone. A key limitation is that these are preliminary data from a small number of families within a narrative review framework, without systematic cohort analysis.
