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Spinal Dysraphism

General

Disease Name
Spinal Dysraphism
OMIA
938
Gene Name
NKX2-8
Mutation
p.A150VfsX1
Mutation 2
c.174del_G
Mutation 3
ins2bp(AA)
Mutation 4
G>AA, A150VfsX1
Test Type
Genetic Disease/Disorder
Details
Spinal dysraphism is present at birth and is an inherited condition that is co-dominant. Myelodysplasia occurs as a result of pre-natal development that is abnormal and malformations of the spinal cord occur. Lesions in the spinal column form and are most severe in the lumbar or lower back region. The puppies will have an awkward gait or will bunny hop on the hind end.The disease will become apparent between four and six weeks of age when puppies begin walking. This is a non-progressive disease and most dogs diagnosed are able to live fairly normal lives.
Details 2
Neural tube defects (NTDs) is a general term for central nervous system malformations secondary to a failure of closure or development of the neural tube. The resulting pathologies may involve the brain, spinal cord and/or vertebral column, in addition to associated structures such as soft tissue or skin. The condition is reported among the more common birth defects in humans, leading to significant infant morbidity and mortality. The etiology remains poorly understood but genetic, nutritional, environmental factors, or a combination of these, are known to play a role in the development of NTDs. The variable conditions associated with NTDs occur naturally in dogs, and have been previously reported in the Weimaraner breed. (From Safra et al, 2013)
Published
Safra, N., Bassuk, A.G., Ferguson, P.J., Aguilar, M., Coulson, R.L., Thomas, N., Hitchens, P.L., Dickinson, P.J., Vernau, K.M., Wolf, Z.T., Bannasch, D.L. : Genome-wide association mapping in dogs enables identification of the homeobox gene, NKX2-8, as a genetic component of neural tube defects in humans. PLoS Genet 9:e1003646, 2013. Pubmed reference: 23874236. DOI: 10.1371/journal.pgen.1003646.
Body/System/Process
Neurologic
Inheritance
AR
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