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dc.contributor.authorOnat, O. E.en_US
dc.contributor.authorGulsuner, S.en_US
dc.contributor.authorBilguvar, K.en_US
dc.contributor.authorBasak, A. N.en_US
dc.contributor.authorTopaloglu, H.en_US
dc.contributor.authorTan, M.en_US
dc.contributor.authorTan, U.en_US
dc.contributor.authorGunel, M.en_US
dc.contributor.authorOzcelik, T.en_US
dc.date.accessioned2016-02-08T09:40:19Z
dc.date.available2016-02-08T09:40:19Z
dc.date.issued2013en_US
dc.identifier.issn1018-4813
dc.identifier.urihttp://hdl.handle.net/11693/21053
dc.description.abstractCerebellar ataxia, mental retardation and dysequilibrium syndrome is a rare and heterogeneous condition. We investigated a consanguineous family from Turkey with four affected individuals exhibiting the condition. Homozygosity mapping revealed that several shared homozygous regions, including chromosome 13q12. Targeted next-generation sequencing of an affected individual followed by segregation analysis, population screening and prediction approaches revealed a novel missense variant, p.I376M, in ATP8A2. The mutation lies in a highly conserved C-terminal transmembrane region of E1 E2 ATPase domain. The ATP8A2 gene is mainly expressed in brain and development, in particular cerebellum. Interestingly, an unrelated individual has been identified, in whom mental retardation and severe hypotonia is associated with a de novo t(10;13) balanced translocation resulting with the disruption of ATP8A2. These findings suggest that ATP8A2 is involved in the development of the cerebro-cerebellar structures required for posture and gait in humans. © 2013 Macmillan Publishers Limited All rights reserved.en_US
dc.language.isoEnglishen_US
dc.source.titleEuropean Journal of Human Geneticsen_US
dc.relation.isversionofhttp://dx.doi.org/10.1038/ejhg.2012.170en_US
dc.subjectATP8A2en_US
dc.subjectCAMRQen_US
dc.subjectCerebellar hypoplasiaen_US
dc.subjectQuadrupedal locomotionen_US
dc.subjectTargeted next-generation sequencingen_US
dc.titleMissense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotionen_US
dc.typeArticleen_US
dc.departmentDepartment of Molecular Biology and Geneticsen_US
dc.citation.spage281en_US
dc.citation.epage285en_US
dc.citation.volumeNumber21en_US
dc.citation.issueNumber3en_US
dc.identifier.doi10.1038/ejhg.2012.170en_US
dc.publisherNature Publishing Groupen_US


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