Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation

Fanconi anemia is a hereditary form progressive bone marrow failure and multiple congenital anomalies and many genes are known to cause this disease when mutated.  In a child with classical Fanconi anemia and in whom all known Fanconi genes have been ruled out, we performed exome sequencing.  We show that by filtering the resulting variants by this child’s pattern of autozygosity we were able to identify a truncating mutation in XRCC2, which encodes a protein with an established role in DNA damage repair just like all other known Fanconi genes.  The animal model is consistent with this mutation being causal to our patient’s Fanconi anemia. (By Prof. Fowzan S Alkuraya, http://jmg.bmj.com/content/early/2012/01/09/jmedgenet-2011-100585.abstract?papetoc )