Neural tube defect family with recessive trait linked to chromosome 9q21.12-21.31

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dc.authoridTanrikulu, Bahattin -- 0000-0002-9096-8685; Bayri, Yasar -- 0000-0003-1707-6055en_US
dc.contributor.authorBayri, Yasar
dc.contributor.authorSoylemez, Burcak
dc.contributor.authorSeker, Askin
dc.contributor.authorYuksel, Sirin
dc.contributor.authorTanrikulu, Bahattin
dc.contributor.authorUnver, Olcay
dc.contributor.authorCanbolat, Cagri
dc.contributor.authorSakar, Mustafa
dc.contributor.authorKardag, Ozen
dc.contributor.authorYakicier, Cengiz
dc.contributor.authorDagcinar, Adnan
dc.contributor.authorZiyal, Ibrahim
dc.contributor.authorBayrakli, Fatih
dc.date.accessioned2019-07-27T12:10:23Z
dc.date.accessioned2019-07-28T09:48:12Z
dc.date.available2019-07-27T12:10:23Z
dc.date.available2019-07-28T09:48:12Z
dc.date.issued2015
dc.department[Bayri, Yasar -- Seker, Askin -- Sakar, Mustafa -- Dagcinar, Adnan -- Ziyal, Ibrahim -- Bayrakli, Fatih] Marmara Univ, Sch Med, Dept Neurosurg, Istanbul, Turkey -- [Bayri, Yasar -- Seker, Askin -- Sakar, Mustafa -- Dagcinar, Adnan -- Ziyal, Ibrahim -- Bayrakli, Fatih] Marmara Univ, Inst Neurol Sci, Istanbul, Turkey -- [Soylemez, Burcak -- Canbolat, Cagri -- Kardag, Ozen] Cumhuriyet Univ, Dept Neurosurg, Sch Med, Sivas, Turkey -- [Yuksel, Sirin] Acibadem Univ, Dept Med Biol, Sch Med, Istanbul, Turkey -- [Tanrikulu, Bahattin -- Yakicier, Cengiz] Marmara Univ, Neurosurg Clin, Pendik Educ & Res Hosp, Istanbul, Turkey -- [Unver, Olcay] Marmara Univ, Dept Child Neurol, Sch Med, Istanbul, Turkeyen_US
dc.description.abstractMeningomyelocele is one of the most common and socioeconomically, psychologically, and physically debilitating neurodevelopmental diseases. A few chromosomal locus and genes have been identified as responsible for the disease; however, clear evidence still needs to be produced. This study aimed to show evidence of a strong genetic linkage in a novel chromosomal locus in a family with this neural tube defect. We identified a neural tube defect family in eastern Turkey, where two of six offspring had operations due to thoracolumbar meningomyelocele. The parents were of a consanguineous marriage. We collected venous blood from six offspring of the family. Whole genome linkage analysis was performed in all offspring. A theoretical maximum logarithm of an odds score of 3.16 was identified on chromosome 9q21.12-21.31. This result shows a strong genetic linkage to this locus. Our results identified a novel chromosomal locus related to meningomyelocele and provide a base for further investigations toward the discovery of a new causative gene.en_US
dc.identifier.doi10.1007/s00381-015-2753-zen_US
dc.identifier.endpage1370en_US
dc.identifier.issn0256-7040
dc.identifier.issn1433-0350
dc.identifier.issue8en_US
dc.identifier.pmid26005079en_US
dc.identifier.scopus2-s2.0-84937978796en_US
dc.identifier.scopusqualityQ2
dc.identifier.startpage1367en_US
dc.identifier.urihttps://dx.doi.org/10.1007/s00381-015-2753-z
dc.identifier.urihttps://hdl.handle.net/20.500.12418/7776
dc.identifier.volume31en_US
dc.identifier.wosWOS:000358382400025en_US
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSPRINGERen_US
dc.relation.ispartofCHILDS NERVOUS SYSTEMen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectMeningomyeloceleen_US
dc.subjectNeural tube defectsen_US
dc.subjectWhole genome linkage analysisen_US
dc.subjectChromosomeen_US
dc.subjectLOD scoreen_US
dc.titleNeural tube defect family with recessive trait linked to chromosome 9q21.12-21.31en_US
dc.typeArticleen_US

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