alexa Paternally Inherited GABRB3 Intragenic Deletion in a Bo
ISSN: 2165-7890

Autism-Open Access
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Research Article

Paternally Inherited GABRB3 Intragenic Deletion in a Boy with Autistic Features and Angelman Syndrome Phenotype Case Report and Literature Review

Krzysztof Szczaluba1,2*, Ilona Jaszczuk3, Monika Lejman4, Agata Makarewicz5, Renata Koncewicz6 and Urszula Demkow7

1MedGen Medical Centre, Warsaw, Poland

2Mastermed Medical Centre, Bialystok, Poland

3Paediatric Haematology, Oncology and Transplantology Department, University Children Hospital, Lublin, Poland

4Paediatric Haematology, Oncology and Transplantology Department, Cytogenetic Laboratory, University Children Hospital, Lublin, Poland

5Department of Psychiatry, Psychotherapy and Early Intervention, Medical University of Lublin, Poland

6Medical University of Lublin, Department of Child Neurology, Poland

7Department of Laboratory Diagnostics and Clinical Immunology of Developmental Age, Medical University of Warsaw, Warsaw, Poland

*Corresponding Author:
Szczaluba K
MedGen Medical Centre, Warsaw, Poland
Tel: 515141414
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.


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