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Lab Reports
September 4, 2013

Gene Mutations Implicated in Some Neural Tube Defect Cases

JAMA. 2013;310(9):894. doi:10.1001/jama.2013.277036

Genome mapping in 4 pet Weimaraner dogs affected by spinal dysraphism—a spinal cord disorder characterized by impaired motor coordination or partial paralysis in the legs, abnormal gait, a crouched stance, and abnormal leg reflexes—uncovered a mutation in a gene called NKX2-8, a “homeobox” gene known to be involved with regulating patterns of anatomical development in the embryo (Safra N et al. PLoS Genet. 2013;9[7]:e1003646).

Previous studies showed that the protein encoded by the mouse counterpart to the NKX2-8 gene plays an essential role in the development of distinct neuronal populations in the hindbrain and ventral spinal cord.