Article
Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndrome.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Sept 2024
Cogliati Francesca, Straniero Letizia, Rimoldi Valeria, Masciadri Maura, Perego Sara, Rinaldi Berardo, Milani Donatella, Gentilini Davide, Larizza Lidia, Asselta Rosanna, Russo Silvia, Bedeschi Maria Francesca
Abstract excerpt
Loss-of-function CHD2 (chromodomain helicase DNA-binding protein 2) mutations are associated with a spectrum of neurodevelopmental disorders often including early-onset generalized seizures, photosensitivity, and epileptic encephalopathies. Patients show psychomotor delay/intellectual disability (ID), autistic features, and behavior disorders, such as aggression and impulsivity. Most reported cases are sporadic...
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