Paternally Inherited GABRB3 Intragenic Deletion in a Boy with Autistic Features and Angelman Syndrome Phenotype Case Report and Literature Review
- *Corresponding Author:
- Szczaluba K
MedGen Medical Centre, Warsaw, Poland
E-mail: [email protected]
Received date: 29 March 2016; Accepted date: 18 June 2016; Published date: 25 June, 2016
Citation: Szczaluba K, Jaszczuk I, Lejman M, Makarewicz A, Koncewicz R, et al. (2016) Paternally Inherited GABRB3 Intragenic Deletion in a Boy with Autistic Features and Angelman Syndrome Phenotype–Case Report and Literature Review. Autism Open Access 6:182. doi:10.4172/2165-7890.1000182
Copyright: © 2016 Szczaluba K, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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.