Maria Letizia Minniti, Silvia Kalantari, Ludovica Pasca, Samantha Bruno, Sebastiano Arceri, Elisa Novello, Elisa Giorgio, Vittoria Rizzo, Renato Borgatti, Enza Maria Valente, Antonio Pisani, Simona Orcesi, Fabio Sirchia
Brunner syndrome is a recessive X-linked disorder caused by pathogenic variants in the monoamine oxidase A gene (MAOA). It is characterized by distinctive aggressive behavior, mild intellectual disability, sleep disturbances, and typical biochemical alterations deriving from the impaired monoamine metabolism. We herein describe a 5-year-old boy with developmental delay, autistic features, and myoclonic epilepsy, and his mother, who had mild intellectual disability and recurrent episodes of palpitations, headache, abdominal pain, and abdominal bloating...
September 26, 2023: American Journal of Medical Genetics. Part A