Article
The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?
PloS one - 1 Jan 2016
Seemanova Eva, Varon Raymonda, Vejvalka Jan, Jarolim Petr, Seeman Pavel, Chrzanowska Krystyna H, Digweed Martin, Resnick Igor, Kremensky Ivo, Saar Kathrin, Hoffmann Katrin, Dutrannoy Véronique, Karbasiyan Mohsen, Ghani Mehdi, Barić Ivo, Tekin Mustafa, Kovacs Peter, Krawczak Michael, Reis André, Sperling Karl, Nothnagel Michael
Abstract excerpt
The vast majority of patients with Nijmegen Breakage Syndrome (NBS) are of Slavic origin and carry a deleterious deletion (c.657del5; rs587776650) in the NBN gene on chromosome 8q21. This mutation is essentially confined to Slavic populations and may thus be considered a Slavic founder mutation. Notably, not a single parenthood of a homozygous c.657del5 carrier has been reported to date, while heterozygous...
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