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

• Autorzy: Maurer M , Hoffmann K , Sperling K , Varon R
• Języki publikacji: EN

Abstrakty

EN

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.657-661 del5 mutation) in a Northeast Bavarian region in Southeast Germany, we estimated the prevalence of this mutation in this area and compared itto another German region. We found a high carrier frequency of 1/176 for the c.657-661 del5 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 thee.657-661 del5 mutation of 1/34. Whereas the Slavic origin of the Sorbs has been known, we attribute the surprisingly high frequencies of c.657-661 del5 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.

Słowa kluczowe

PL

Nijmegen breakage syndrome; prevalence; NBN gene; gene mutation; German region; Bavaria; cancer predisposition; high cancer predisposition; patient

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2010
• Tom: 51
• Numer: 2
• Opis fizyczny: p.211-214,ref.

Twórcy

autor

Maurer M

• Institute of Human Genetics, Charite University Hospital, Charite Medical University, Augustenburger Platz 1, 13353 Berlin, Germany

autor

Hoffmann K

• Institute of Human Genetics, Charite University Hospital, Charite Medical University, Augustenburger Platz 1, 13353 Berlin, Germany

autor

Sperling K

• Institute of Human Genetics, Charite University Hospital, Charite Medical University, Augustenburger Platz 1, 13353 Berlin, Germany

autor

Varon R

• Institute of Human Genetics, Charite University Hospital, Charite Medical University, Augustenburger Platz 1, 13353 Berlin, Germany

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