Abstract
Purpose
Meningomyelocele 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.
Methods
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.
Results
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.
Conclusions
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.
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The authors declare that they have no conflict of interest.
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Bayri, Y., Soylemez, B., Seker, A. et al. Neural tube defect family with recessive trait linked to chromosome 9q21.12-21.31. Childs Nerv Syst 31, 1367–1370 (2015). https://doi.org/10.1007/s00381-015-2753-z
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DOI: https://doi.org/10.1007/s00381-015-2753-z