Intracranial arachnoid cyst family with autosomal recessive trait mapped to chromosome 6q22.31-23.2

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dc.contributor.authorBayrakli, Fatih
dc.contributor.authorOkten, Ali Ihsan
dc.contributor.authorKartal, Ugur
dc.contributor.authorMenekse, Guner
dc.contributor.authorGuzel, Aslan
dc.contributor.authorOztoprak, Ibrahim
dc.contributor.authorPinarbasi, Ergun
dc.contributor.authorKars, Hamit Zafer
dc.date.accessioned2019-07-27T12:10:23Z
dc.date.accessioned2019-07-28T10:03:35Z
dc.date.available2019-07-27T12:10:23Z
dc.date.available2019-07-28T10:03:35Z
dc.date.issued2012
dc.department[Bayrakli, Fatih -- Kars, Hamit Zafer] Cumhuriyet Univ, Sch Med, Dept Neurosurg, TR-58140 Merkez, Sivas, Turkey -- [Okten, Ali Ihsan -- Menekse, Guner -- Guzel, Aslan] Adana Numune Res & Educ Hosp, Dept Neurosurg, Adana, Turkey -- [Kartal, Ugur -- Pinarbasi, Ergun] Cumhuriyet Univ, Sch Med, Dept Med Biol, TR-58140 Merkez, Sivas, Turkey -- [Oztoprak, Ibrahim] Cumhuriyet Univ, Sch Med, Dept Radiol, TR-58140 Merkez, Sivas, Turkeyen_US
dc.description.abstractArachnoid cysts are congenital fluid-filled compartments within the cerebrospinal fluid cisterns and cerebral fissures. They most commonly occur sporadically, and familial occurrence has rarely been reported. In this study, we showed the first genetic linkage in the literature in a pure intracranial arachnoid cyst family with autosomal recessive trait. We identified an intracranial arachnoid cyst family in southern Turkey whose six of seven offspring had intracranial arachnoid cysts in different localizations, and collected venous blood from seven offspring of the family. Whole-genome linkage analysis was performed in all offspring. A theorical maximum logarithm of the odds score of 4.6 was identified at chromosome 6q22.31-23.2. This result shows strong genetic linkage to this locus. We present the first genetic linkage analysis result in a pure intracranial arachnoid cyst family in literature. Further investigation of this linkage area can reveal a causative gene causing the intracranial arachnoid cyst phenotype and can illuminate the pathogenesis of this disease.en_US
dc.description.sponsorshipCumhuriyet University [T-455]en_US
dc.description.sponsorshipThis work was supported by the Scientific Research Project Fund of Cumhuriyet University under project number T-455.en_US
dc.identifier.doi10.1007/s00701-012-1312-6en_US
dc.identifier.endpage1292en_US
dc.identifier.issn0001-6268
dc.identifier.issue7en_US
dc.identifier.pmid22389037en_US
dc.identifier.scopus2-s2.0-84865770703en_US
dc.identifier.scopusqualityQ1
dc.identifier.startpage1287en_US
dc.identifier.urihttps://dx.doi.org/10.1007/s00701-012-1312-6
dc.identifier.urihttps://hdl.handle.net/20.500.12418/9085
dc.identifier.volume154en_US
dc.identifier.wosWOS:000305677700028en_US
dc.identifier.wosqualityQ2
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSPRINGER WIENen_US
dc.relation.ispartofACTA NEUROCHIRURGICAen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectIntracranial arachnoid cysten_US
dc.subjectWhole-genome linkage analysisen_US
dc.subjectAutosomal recessive traiten_US
dc.subjectLogarithm of the odds scoreen_US
dc.titleIntracranial arachnoid cyst family with autosomal recessive trait mapped to chromosome 6q22.31-23.2en_US
dc.typeArticleen_US

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