Birth Defect Discovery in Weimaraners Might Help Humans

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Researchers who pinpointed a gene associated with neural tube defects in Weimaraners say the gene may be an important risk factor for this type of birth defect in people as well.

Each year, more than 300,000 babies worldwide are born with neural tube defects such as spina bifida and anencephaly. These defects are caused by incomplete closure or development of the spine and skull.

"The cause of neural tube defects is poorly understood but has long been thought to be associated with genetic, nutritional and environmental factors," study lead author Noa Safra, a postdoctoral fellow at the University of California, Davis, School of Veterinary Medicine, said in a university news release.

Safra said several conditions associated with neural-tube defects occur naturally in dogs. All of the DNA samples used in the study were taken from household pets, not laboratory animals.

Safra and her colleagues found that a mutation in a gene called NKX2-8 was associated with neural tube defects in Weimaraners, but not in other dog breeds.

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The team then analyzed DNA samples from 149 people with spina bifida and found that six of them carried mutations of the NKX2-8 gene. However, further studies are needed to determine if these mutations actually cause neural tube defects in people, the researchers said.

The study was published July 18 in the journal PLoS Genetics.

More information

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The U.S. National Institute of Child Health and Human Development has more about neural tube defects.

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