Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy

Simple item page
dc.citation.epage325en_US
dc.citation.issueNumber3en_US
dc.citation.spage319en_US
dc.citation.volumeNumber11en_US
dc.contributor.authorKolb, L. E.en_US
dc.contributor.authorArlier, Z.en_US
dc.contributor.authorYalcinkaya, C.en_US
dc.contributor.authorOzturk, A. K.en_US
dc.contributor.authorMoliterno, J. A.en_US
dc.contributor.authorErturk, O.en_US
dc.contributor.authorBayrakli, F.en_US
dc.contributor.authorKorkmaz, B.en_US
dc.contributor.authorDiLuna, M. L.en_US
dc.contributor.authorYasuno, K.en_US
dc.contributor.authorBilguvar, K.en_US
dc.contributor.authorOzcelik, T.en_US
dc.contributor.authorTuysuz, B.en_US
dc.contributor.authorState, M. W.en_US
dc.contributor.authorGunel, M.en_US
dc.date.accessioned2016-02-08T09:58:00Z
dc.date.available2016-02-08T09:58:00Z
dc.date.issued2010en_US
dc.departmentDepartment of Molecular Biology and Geneticsen_US
dc.departmentInstitute of Materials Science and Nanotechnology (UNAM)en_US
dc.description.abstractCongenital ataxia with cerebellar hypoplasia is a heterogeneous group of disorders that presents with motor disability, hypotonia, incoordination, and impaired motor development. Among these, disequilibrium syndrome describes a constellation of findings including non-progressive cerebellar ataxia, mental retardation, and cerebellar hypoplasia following an autosomal recessive pattern of inheritance and can be caused by mutations in the Very Low Density Lipoprotein Receptor (VLDLR). Interestingly, while the majority of patients with VLDL-associated cerebellar hypoplasia in the literature use bipedal gait, the previously reported patients of Turkish decent have demonstrated similar neurological sequelae, but rely on quadrupedal gait. We present a consanguinous Turkish family with two siblings with cerebellar atrophy, predominantly frontal pachygyria and ataxic bipedal gait, who were found to have a novel homozygous deletion in the VLDLR gene identified by using high-density single nucleotide polymorphism microarrays for homozygosity mapping and identification of CNVs within these regions. Discovery of disease causing homozygous deletions in the present Turkish family capable of maintaining bipedal movement exemplifies the phenotypic heterogeneity of VLDLR-associated cerebellar hypoplasia and ataxia.en_US
dc.identifier.doi10.1007/s10048-009-0232-yen_US
dc.identifier.issn1364-6745
dc.identifier.urihttp://hdl.handle.net/11693/22282
dc.language.isoEnglishen_US
dc.publisherSpringeren_US
dc.relation.isversionofhttp://dx.doi.org/10.1007/s10048-009-0232-yen_US
dc.source.titleNeurogeneticsen_US
dc.subjectCerebellar hypoplasiaen_US
dc.subjectDisequilibrium syndromeen_US
dc.subjectPachygyriaen_US
dc.subjectVLDLRen_US
dc.subjectVery low density lipoprotein receptoren_US
dc.subjectLow density lipoprotein receptoren_US
dc.subjectVery low density lipoprotein receptoren_US
dc.subjectArticleen_US
dc.subjectAtaxiaen_US
dc.subjectCase reporten_US
dc.subjectChilden_US
dc.subjectConsanguineous marriageen_US
dc.subjectContingent negative variationen_US
dc.subjectFemaleen_US
dc.subjectGene deletionen_US
dc.subjectGene mappingen_US
dc.subjectHomozygosityen_US
dc.subjectHumanen_US
dc.subjectMaleen_US
dc.subjectOlivopontocerebellar atrophyen_US
dc.subjectPachygyriaen_US
dc.subjectPriority journalen_US
dc.subjectSchool childen_US
dc.subjectSingle nucleotide polymorphismen_US
dc.subjectTurkey (republic)en_US
dc.subjectAtaxic gaiten_US
dc.subjectCerebellar ataxiaen_US
dc.subjectConsanguinityen_US
dc.subjectGene deletionen_US
dc.subjectGeneticsen_US
dc.subjectHomozygoteen_US
dc.subjectLissencephalyen_US
dc.subjectNuclear magnetic resonance imagingen_US
dc.subjectOlivopontocerebellar atrophiesen_US
dc.subjectSiblingen_US
dc.subjectTurkeyen_US
dc.subjectCerebellar ataxiaen_US
dc.subjectChilden_US
dc.subjectConsanguinityen_US
dc.subjectGait ataxiaen_US
dc.subjectHomozygoteen_US
dc.subjectHumansen_US
dc.subjectLissencephalyen_US
dc.subjectMagnetic resonance imagingen_US
dc.subjectMaleen_US
dc.subjectOlivopontocerebellar atrophiesen_US
dc.subjectReceptors, LDLen_US
dc.subjectSequence deletionen_US
dc.subjectSiblingsen_US
dc.titleNovel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophyen_US
dc.typeArticleen_US

Files

Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy.pdf
Size:
333.27 KB
Format:
Adobe Portable Document Format
Description:
Full printable version
Download

Collections

Department of Molecular Biology and Genetics
Institute of Materials Science and Nanotechnology (UNAM)