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Lafora epilepsy - statistical overview of the results

From December 2017 to April 2018, Genomia tested 512 beagles for Lafora epilepsy genetic test -  unstable 12-mer expansion in NHLRC1 gene. More information about the disease and test is available at https://www.genomia.cz/en/test/lafora/

Samples originated from following countries: Germany, Denmark, Italy, USA, New Zealand, Netherlands, Finland, France, Russia, Slovakia, Hungary, Great Britain, Australia,  Switzerland, Sweden, Belgium, Norway, Czech Republic, Malta, Austria, Poland, Singapore. (the order of the states is listed randomly)

Following genotype distribution was found:

  • wild-type N2 / N2:  20 dogs => 3,9 %
  • wild-type N3 / N3: 256 dogs => 50,0 %
  • wild-type N2 / N3: 109 dogs => 21,3 %
  • carrier N2 / P: 24 dogs => 4,7 %, dogs originated from Germany, Denmark, Great Britain, Australia, Italy, Switzerland
  • carrier N3 / P: 93 dogs => 18,2 %, dogs originated from Germany, Denmark, Great Britain, Australia,  Italy, Switzerland, Sweden, Belgium, Norway, Czech Republic, Malta, Austria, Poland
  • affected P / P:  10 dogs => 1,9 %, dogs originated from Germany, Denmark, Czech Republic

Summary:

  • normal dogs 75,2 %
  • carriers 22,9 %
  • affected 1,9 %

Related and unrelated dogs were included in testing. Number of related dogs increased the rate of carriers. Probably, in the population of Beagles, the carriers are less represented. Anyway, the variant allele is significantly spreaded in the Beagle population.

Next overview will be prepared in September 2018.

Pilsen, Czech Republic, April 18, 2018

Genomia team