Bayri, YasarSoylemez, BurcakSeker, AskinYuksel, SirinTanrikulu, BahattinUnver, OlcayCanbolat, CagriSakar, MustafaKardag, OzenYakicier, CengizDagcinar, AdnanZiyal, IbrahimBayrakli, Fatih2019-07-272019-07-282019-07-272019-07-2820150256-70401433-0350https://dx.doi.org/10.1007/s00381-015-2753-zhttps://hdl.handle.net/20.500.12418/7776Meningomyelocele 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.en10.1007/s00381-015-2753-zinfo:eu-repo/semantics/closedAccessMeningomyeloceleNeural tube defectsWhole genome linkage analysisChromosomeLOD scoreNeural tube defect family with recessive trait linked to chromosome 9q21.12-21.31Article31813701367260050792-s2.0-84937978796Q2WOS:000358382400025Q3