title: High prevalence of the NBN gene mutation c.657-661del5 in Southeast Germany.
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.
authors.affiliation: Institute of Human Genetics, Charité University Hospital, Berlin, Germany. martin.maurer@charite.de
authors.forename: M H
authors.initials: MH
authors.lastname: Maurer
authors.forename: K
authors.initials: K
authors.lastname: Hoffmann
authors.forename: K
authors.initials: K
authors.lastname: Sperling
authors.forename: R
authors.initials: R
authors.lastname: Varon
mesh_terms: D018797:Cell Cycle Proteins / Q000235:genetics*; D043171:Chromosomal Instability / Q000235:genetics; D018703:Founder Effect; D005787:Gene Frequency; D005843:Geography; D005858:Germany; D006720:Homozygote; D008223:Lymphoma / Q000453:epidemiology / Q000235:genetics; D009154:Mutation; D009369:Neoplasms / Q000453:epidemiology / Q000235:genetics; D049932:Nijmegen Breakage Syndrome / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D018797:Cell Cycle Proteins; C112156:NBN protein, human; D009687:Nuclear Proteins
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