A missense mutation in the MACF1 gene in a patient with autism spectrum disorder and epilepsy.

The MACF1 gene (OMIM: 608271) encodes the Microtubule-Actin Cross-Linking Factor 1 protein. Existing medical research shows that genetic mutations in the MACF1 gene have been associated with neurodevelopmental and neurodegenerative disorders, with variants of unknown significance also linked to autism spectrum disorder (ASD). However, the number of reported autism disorder or epilepsy cases associated with MACF1 mutations remains limited. We present the case of a 7-year-old girl, a long-term patient at the Pediatric Neurology Clinic of Dr. Alexandru Obregia Hospital in Bucharest, followed since the age of 3. She initially presented with epilepsy characterized by generalized seizures, clinically resembling both spasms and myoclonus. Over time, she exhibited features of a pervasive developmental disorder and moderate cognitive delay. Genetic testing identified a missense point mutation in the MACF1 gene, c.16223C > T, p.(Pro504Leu). Her final diagnosis was epilepsy with generalized seizures of non-lesional origin, moderate cognitive impairment, pervasive developmental disorder, and a confirmed point mutation in the MACF1 gene. This case underscores the importance of incorporating genetic testing into the diagnostic process for patients with autism spectrum disorder and epilepsy.