Article
Clinical characterization of a novel RAB39B nonstop mutation in a family with ASD and severe ID causing RAB39B downregulation and study of a Rab39b knock down mouse model.
Human molecular genetics - 4 May 2022
Mignogna Maria Lidia, Ficarella Romina, Gelmini Susanna, Marzulli Lucia, Ponzi Emanuela, Gabellone Alessandra, Peschechera Antonia, Alessio Massino, Margari Lucia, Gentile Mattia, D'Adamo Patrizia
Abstract excerpt
Autism spectrum disorder (ASD) and intellectual disability (ID) often exist together in patients. The RAB39B gene has been reported to be mutated in ID patients with additional clinical features ranging from ASD, macrocephaly, seizures and/or early-onset parkinsonism. Here, we describe a novel RAB39B nonstop mutation [Xq28; c.640 T > C; p.(*214Glnext*21)] in a family with ASD, severe ID and poor motor...
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