DAĞÇINAR, ADNANBAYRAKLI, FATİHSAKAR, MUSTAFAZİYAL, MUSTAFA İBRAHİMÜNVER, OLCAYBAYRİ, YAŞAR2022-03-132022-03-1320150256-7040https://hdl.handle.net/11424/238468Meningomyelocele 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.enginfo:eu-repo/semantics/closedAccessMeningomyeloceleNeural tube defectsWhole genome linkage analysisChromosomeLOD scoreIDENTIFICATIONGENETICSarticleWOS:00035838240002510.1007/s00381-015-2753-z260050791433-0350