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Journal of Applied Genetics 51(2), 2010, pp. 211-214

High prevalence of the NBN gene mutation c.657-661del5 in Southeast Germany

M. Maurer, K. Hoffmann, K. Sperling, R. Varon

Abstract: Nijmegen breakage syndrome (NBS), a rare autosomal recessive chromosomal instability disorder, is caused by mutations in the NBN gene. Most patients known so far are of Slavic origin and carry the major founder mutation c.657-661del5. Due to an unexpectedly high incidence of NBS patients (homozygous for the c.657-661del5 mutation) in a Northeast Bavarian region in Southeast Germany, we estimated the prevalence of this mutation in this area and compared it to another German region. We found a high carrier frequency of 1/176 for the c.657-661del5 mutation among newborns in Northeast Bavaria, while the frequency of the mutation in Berlin was 1/990. We further studied families from a Slavic population isolate, the Sorbs, in the Lusatian region in Northeast Saxony, and revealed a prevalence of the c.657-661del5 mutation of 1/34. Whereas the Slavic origin of the Sorbs has been known, we attribute the surprisingly high frequencies of c.657-661del5 mutation in Bavaria (similar to frequencies of this mutation in various Eastern European countries) to a high percentage of people of Slavic origin in Northeast Bavaria

Key words: c.657-661del5 mutation, frequency, Nijmegen breakage syndrome, NBN gene, Sorbs

Correspondence: M. H. Maurer, Institute of Human Genetics, Charite Medical University, Augustenburger Platz 1, 13353 Berlin, Germany; e-mail:

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