Nijmegen breakage syndrome is a rare disease manifesting approximately in 1 out of 95 000 live births. It is caused, in most cases, by a deletion of 5 nucleotides in exon 6 of nibrin gene, resulting in production of truncated protein and chromosomal instability as functional nibrin is an important part of the homologous recombination pathway. Common symptoms include microcephaly, mild growth retardation, combined humoral and cellular immunodeficiency as well as high susceptibility to malignancies. We have reprogrammed fibroblasts from a patient carrying the founder mutation (homozygous) into pluripotent stem cells, obtaining a cellular model with no detectable nibrin expression.
Beckerová et al. (Wed,) studied this question.