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dc.contributor.authorGulsuner, Suleyman
dc.contributor.authorTekinay, Ayse Begum
dc.contributor.authorDoerschner, Katja
dc.contributor.authorBoyaci, Huseyin
dc.contributor.authorBilguvar, Kaya
dc.contributor.authorUnal, Hilal
dc.contributor.authorOrs, Aslihan
dc.contributor.authorOnat, O. Emre
dc.contributor.authorAtalar, Ergin
dc.contributor.authorBasak, A. Nazli
dc.contributor.authorTopaloglu, Haluk
dc.contributor.authorKansu, Tulay
dc.contributor.authorTan, Meliha
dc.contributor.authorTan, Uner
dc.contributor.authorGunel, Murat
dc.contributor.authorOzcelik, Tayfun
dc.date.accessioned2019-12-10T11:25:05Z
dc.date.available2019-12-10T11:25:05Z
dc.date.issued2011
dc.identifier.issn1088-9051
dc.identifier.urihttps://doi.org/10.1101/gr.126110.111
dc.identifier.urihttp://hdl.handle.net/11655/15691
dc.description.abstractThe biological basis for the development of the cerebro-cerebellar structures required for posture and gait in humans is poorly understood. We investigated a large consanguineous family from Turkey exhibiting an extremely rare phenotype associated with quadrupedal locomotion, mental retardation, and cerebro-cerebellar hypoplasia, linked to a 7.1-Mb region of homozygosity on chromosome 17p13.1-13.3. Diffusion weighted imaging and fiber tractography of the patients' brains revealed morphological abnormalities in the cerebellum and corpus callosum, in particular atrophy of superior, middle, and inferior peduncles of the cerebellum. Structural magnetic resonance imaging showed additional morphometric abnormalities in several cortical areas, including the corpus callosum, precentral gyrus, and Brodmann areas BA6, BA44, and BA45. Targeted sequencing of the entire homozygous region in three affected individuals and two obligate carriers uncovered a private missense mutation, WDR81 p.P856L, which cosegregated with the condition in the extended family. The mutation lies in a highly conserved region of WDR81, flanked by an N-terminal BEACH domain and C-terminal WD40 beta-propeller domains. WDR81 is predicted to be a transmembrane protein. It is highly expressed in the cerebellum and corpus callosum, in particular in the Purkinje cell layer of the cerebellum. WDR81 represents the third gene, after VLDLR and CA8, implicated in quadrupedal locomotion in humans.
dc.language.isoen
dc.publisherCold Spring Harbor Lab Press, Publications Dept
dc.relation.isversionof10.1101/gr.126110.111
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectBiochemistry & Molecular Biology
dc.subjectBiotechnology & Applied Microbiology
dc.subjectGenetics & Heredity
dc.titleHomozygosity Mapping And Targeted Genomic Sequencing Reveal The Gene Responsible For Cerebellar Hypoplasia And Quadrupedal Locomotion In A Consanguineous Kindred
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.relation.journalGenome Research
dc.contributor.departmentNöroloji
dc.identifier.volume21
dc.identifier.issue12
dc.identifier.startpage1995
dc.identifier.endpage2003
dc.description.indexWoS
dc.description.indexScopus


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