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Research Article Open Access
We report on a 4 year old patient with a unique paternally inherited single-exon GABRB3 gene deletion and clinical findings of severe speech delay, intellectual disability, autistic features, unusual behavior, tremor, and history of seizures and gait abnormalities. Similarities and significant differences with other cases involving rearrangements of 15q11-q13 are discussed. Further on, we provide literature review of the clinical picture of GABRB3 mutations.
GABRB3 gene, Copy-number variants, Single nucleotide variants, Angelman syndrome, Intellectual disability, Autism, GABRB3 gene, Copy-number variants, Single nucleotide variants, Angelman syndrome, Intellectual disability, Autism