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Neonatal Encephalopathy with Seizures (NEWS)
| Acronym: | NEWS |
| Gene: | ATF2 |
| Mutation: | c.152T>G |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Neonatal encephalopathy with seizures (NEWS) is an autosomal recessive brain disease. Affected puppies are small and weak at birth. Many die in their first week of life. Those surviving past 1 week develop ataxia, a whole body tremor, and, by 4 to 6 weeks of age, severe generalized clonic–tonic seizures. None survive to 7 weeks of age. Cerebella from affected puppies are reduced in size. Seizures associated with neonatal encephalopathies are often intractable to conventional antiepileptic drugs and often carry a grave prognosis. Dogs fail to develop and die within hours or days of birth because of encephalopathy or a wide variety of other etiologies are often referred to as fading puppies. The disease is affecting and has been characterized among Poodles.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Chen, X., Johnson, G.S., Schnabel, R.D., Taylor, J.F., Johnson, G.C., Parker, H.G., Patterson, E.E., Katz, M.L., Awano, T., Khan, S., et al. (2007). A neonatal encephalopathy with seizures in standard poodle dogs with a missense mutation in the canine ortholog of ATF2. Neurogenetics 9, 41–49.