Advanced Search

Show simple item record

dc.contributor.authorYucesan, E.
dc.contributor.authorIseri, Sibel A. Ugur
dc.contributor.authorBilgic, B.
dc.contributor.authorGormez, Z.
dc.contributor.authorGungor, B. Bakir
dc.contributor.authorSarac, A.
dc.contributor.authorOzdemir, O.
dc.contributor.authorSagiroglu, M.
dc.contributor.authorGurvit, H.
dc.contributor.authorHanagasi, H.
dc.contributor.authorOzbek, U.
dc.descriptionThis work was supported by the grants of Scientific Research Projects Coordination Unit of Istanbul University, the Scientific and Technological Research Council of Turkey (TUBITAK), and the Republic of Turkey Ministry of Development with grant reference numbers of ONAP-11021, UEKAE, BILGEMK030-T439, and Infrastructure Grant-2011 K120020, respectively. Biobanking support was given by Istanbul Development Agency (Project Number TR10/15/YNK/0093). EY and OO have been fellows of TUBITAK Project Number 113S331.en_US
dc.description.abstractSYNE1 related autosomal recessive cerebellar ataxia type 1 (ARCA1) is a late-onset cerebellar ataxia with slow progression originally demonstrated in French-Canadian populations of Quebec, Canada. Nevertheless, recent studies on SYNE1 ataxia have conveyed the condition from a geographically limited pure cerebellar recessive ataxia to a complex multisystem phenotype that is relatively common on the global scale. To determine the underlying genetic cause of the ataxia phenotype in a consanguineous family from Turkey presenting with very slow progressive cerebellar symptoms including dysarthria, dysmetria, and gait ataxia, we performed SNP-based linkage analysis in the family along with whole exome sequencing (WES) in two affected siblings. We identified a homozygous variant in SYNE1 (NM_033071.3: c.13086delC; p.His4362GlnfsX2) in all four affected siblings. This variant presented herein has originally been associated with only pure ataxia in a single case. We thus present segregation and phenotypic manifestations of this variant in four affected family members and further extend the pure ataxia phenotype with upper motor neuron involvement and peripheral neuropathy. Our findings in turn established a precise molecular diagnosis in this family, demonstrating the use of WES combined with linkage analysis in families as a powerful tool for establishing a quick and precise genetic diagnosis of complex neurological phenotypes.en_US
dc.description.sponsorshipIstanbul University ONAP-11021 Turkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK) BILGEMK030-T439 Turkiye Cumhuriyeti Kalkinma Bakanligi 2011 K120020 TR10/15/YNK/0093 Turkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK) 113S331en_US
dc.subjectE. Yucesan and S. A.Ugur Iseri contributed equally to this worken_US
dc.subjectWhole exome sequencingen_US
dc.subjectLinkage analysisen_US
dc.subjectPeripheral neuropathyen_US
dc.subjectAutosomal recessive cerebellar ataxiaen_US
dc.titleSYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkeyen_US
dc.contributor.departmentAGÜ, Mühendislik Fakültesi, Bilgisayar Mühendisliği Bölümüen_US
dc.contributor.institutionauthorBakir-Gungor, Burcu
dc.identifier.volumeVolume 38 Issue 12 Page 2203-2207en_US
dc.relation.journalNEUROLOGICAL SCIENCESen_US
dc.relation.publicationcategoryMakale - Uluslararası - Editör Denetimli Dergien_US

Files in this item


This item appears in the following Collection(s)

Show simple item record