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

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Abstract

Nijmegen breakage syndrome (NBS), a rare autosomal recessive chromosomal instability disorder, is caused by mutations in theNBN 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.

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Authors and Affiliations

  1. Institute of Human Genetics, Charité Medical University, Augustenburger Platz 1, 13353, Berlin, Germany

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

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  1. M. Maurer
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  2. K. Hoffmann
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  3. K. Sperling
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  4. R. Varon
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Correspondence to M. Maurer.

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Maurer, M., Hoffmann, K., Sperling, K. et al. High prevalence of theNBN gene mutation c.657-661del5 in Southeast Germany. J Appl Genet 51, 211–214 (2010). https://doi.org/10.1007/BF03195730

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  • DOI: https://doi.org/10.1007/BF03195730

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