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01.07.2010 | ORIGINAL ARTICLE

Novel variants identified in methyl-CpG-binding domain genes in autistic individuals

verfasst von: Holly N. Cukier, Raquel Rabionet, Ioanna Konidari, Melissa Y. Rayner-Evans, Mary L. Baltos, Harry H. Wright, Ruth K. Abramson, Eden R. Martin, Michael L. Cuccaro, Margaret A. Pericak-Vance, John R. Gilbert

Erschienen in: Neurogenetics | Ausgabe 3/2010

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Abstract

Misregulation of the methyl-CpG-binding protein 2 (MECP2) gene has been found to cause a myriad of neurological disorders including autism, mental retardation, seizures, learning disabilities, and Rett syndrome. We hypothesized that mutations in other members of the methyl-CpG-binding domain (MBD) family may also cause autistic features in individuals. We evaluated 226 autistic individuals for alterations in the four genes most homologous to MECP2: MBD1, MBD2, MBD3, and MBD4. A total of 46 alterations were identified in the four genes, including ten missense changes and two deletions that alter coding sequence. Several are either unique to our autistic population or cosegregate with affected individuals within a family, suggesting a possible relation of these variations to disease etiology. Variants include a R23M alteration in two affected half brothers which falls within the MBD domain of the MBD3 protein, as well as a frameshift in MBD4 that is predicted to truncate almost half of the protein. These results suggest that rare cases of autism may be influenced by mutations in members of the dynamic MBD protein family.

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Titel: Novel variants identified in methyl-CpG-binding domain genes in autistic individuals
verfasst von: Holly N. Cukier
Raquel Rabionet
Ioanna Konidari
Melissa Y. Rayner-Evans
Mary L. Baltos
Harry H. Wright
Ruth K. Abramson
Eden R. Martin
Michael L. Cuccaro
Margaret A. Pericak-Vance
John R. Gilbert
Publikationsdatum: 01.07.2010
Verlag: Springer-Verlag
Erschienen in: Neurogenetics / Ausgabe 3/2010
Print ISSN: 1364-6745
Elektronische ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-009-0228-7

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