Journal Article

A duplication at chromosome 11q12.2–11q12.3 is associated with spinocerebellar ataxia type 20

Melanie A. Knight, Dena Hernandez, Scott J. Diede, Hans G. Dauwerse, Ian Rafferty, Joyce van de Leemput, Susan M. Forrest, R.J.McKinlay Gardner, Elsdon Storey, Gert-Jan B. van Ommen, Stephen J. Tapscott, Kenneth H. Fischbeck and Andrew B. Singleton

in Human Molecular Genetics

Volume 17, issue 24, pages 3847-3853
Published in print December 2008 | ISSN: 0964-6906
Published online September 2008 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/ddn283
A duplication at chromosome 11q12.2–11q12.3 is associated with spinocerebellar ataxia type 20

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Spinocerebellar ataxia type 20 (SCA20) has been linked to chromosome 11q12, but the underlying genetic defect has yet to be identified. We applied single-nucleotide polymorphism genotyping to detect structural alterations in the genomic DNA of patients with SCA20. We found a 260 kb duplication within the previously linked SCA20 region, which was confirmed by quantitative polymerase chain reaction and fiber fluorescence in situ hybridization, the latter also showing its direct orientation. The duplication spans 10 known and 2 unknown genes, and is present in all affected individuals in the single reported SCA20 pedigree. While the mechanism whereby this duplication may be pathogenic remains to be established, we speculate that the critical gene within the duplicated segment may be DAGLA, the product of which is normally present at the base of Purkinje cell dendritic spines and contributes to the modulation of parallel fiber-Purkinje cell synapses.

Journal Article.  3852 words.  Illustrated.

Subjects: Genetics and Genomics

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