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Benign Familial Juvenile Epilepsy (BFJE)

For: Lagotto Romagnolo

Benign Familial Juvenile Epilepsy (BFJE) is an inherited neurological disease that occurs in Lagotto Romagnolo dogs.  A mutation in the LGI2 gene that is responsible for BFJE was discovered through research conducted at the University of Helsinki by Drs. Lohi, Seppälä and co-investigators (PLoS 2011).  The disease is characterized by seizures in pups, typically beginning near 8 weeks of age. The seizures usually resolve by the time the pups reach 13 weeks however some adult cases of BFJE have also been observed in the breed.

OptiGen now offers a DNA test that is able to detect whether a dog carries 0, 1 or 2 copies of the mutation in the LGI2 gene.  It is estimated that ~32% of the Lagotto Romagnolo population carries this mutation so this high allele  frequency makes BFJE an important disease for breeders to consider when planning Lagotto matings.   There are also other forms of epilepsy that are known to occur in  the Lagotto Romagnolo (and in many other dog breeds). To date, the LGI2  mutation has only been observed in Lagotto Romagnolo.

Similar to most other inherited diseases in the dog for which DNA testing is currently available, BFJE is inherited in an autosomal recessive manner. Carriers do not USUALLY have symptoms of the disease however there have been a few cases where dogs carrying one copy of the LGI2 mutation have had seizures. It is not known whether this was due to another, yet unidentified, mutation or whether in some cases bearing one copy of the LGI2 mutation can cause disease.  This is a topic of ongoing research at the University of Helsinki and OptiGen requests that breeders assist in this study by providing feedback if their Lagotto Romagnolo develops epileptic symptoms over its lifetime.

The table below shows the expected results from breeding dogs of each LGI2 genetic status. It is important to never breed two dogs together that carry one or more copies of the mutation, in order to avoid producing offspring that are affected with BFJE. A simple rule of thumb in selecting breeding pairs is that at least one parent should shown by DNA testing to be clear/normal for BFJE mutation.

Expected results for breeding strategies using the
OptiGen mutation test for Benign Familial Juvenile Epilepsy (BFJE)
Parent 1
Genotype
Parent 2 Genotype
Normal/Clear Carrier Affected
Normal/Clear All = Normal/Clear 1/2 = Normal/Clear
1/2 = Carrier
All = Carrier
Carrier 1/2 = Normal
1/2 = Carrier
1/4 = Normal/Clear
1/2 = Carrier
1/4 = Affected
1/2 = Carrier
1/2 = Affected
Affected All = Carrier
1/2 = Carrier
1/2 = Affected
All = Affected

Reference:

Seppälä EH, Jokinen TS, Fukata M, Fukata Y, Webster MT, Karlsson EK, Kilpinen S,Steffen F, Dietschi E, Leeb T, Eklund R, Xiaochu Z, Rilstone J, Lindblad-Toh K, Minassian BA and Lohi H. LGI2 truncation causes a remitting focal epilepsy in dogs. PLoS Genet. 2011 Jul;7(7):e1002194. Epub 2011 Jul 28.


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OptiGen®, LLC · Cornell Business & Technology Park · 767 Warren Road, Suite 300 · Ithaca, New York 14850
Tel: 607 257 0301 · Fax: 607 257 0353 · email: genetest@optigen.com or optigen@clarityconnect.com
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