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

• Authors: M. Maurer , K. Hoffmann , K. Sperling , R. Varon
• Languages of publication: EN

Abstracts

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.657-661del5 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.

Keywords

EN

FREQUENCY; GERMANY; MUTATION; NBN GENE; NIJMEGEN BREAKAGE SYNDROME

Discipline

• GENETICS: GENETICS

• Publisher: Institute of Plant Genetics, Polish Academy of Sciences
• Journal: Journal of Applied Genetics
• Year: 2010
• Volume: 51
• Issue: 2
• Pages: 211-214

Contributors

author

M. Maurer

author

K. Hoffmann

author

K. Sperling

author

R. Varon

• Document Type: ARTICLE
• Publication order reference: M. Maurer, Institute of Human Genetics, Charit? Medical University, Augustenburger Platz 1, 13353 Berlin, Germany