PT  - JOURNAL ARTICLE
AU  - Hanan E Shamseldin
AU  - Mohamed Elfaki
AU  - Fowzan S Alkuraya
TI  - Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation
AID  - 10.1136/jmedgenet-2011-100585
DP  - 2012 Mar 01
TA  - Journal of Medical Genetics
PG  - 184--186
VI  - 49
IP  - 3
4099  - http://jmg.bmj.com/content/49/3/184.short
4100  - http://jmg.bmj.com/content/49/3/184.full
SO  - J Med Genet2012 Mar 01; 49
AB  - Background Fanconi anaemia (FA) is a group of disorders characterised by progressive bone marrow failure and a characteristic but variable craniofacial and skeletal involvement. Recessive mutations in any of 15 genes linked to FA lead to the pathognomonic increased susceptibility to double-strand DNA breaks.Methods Autozygome and exome analysis of a patient with classic FA phenotypeResults The authors identified a novel truncating mutation in XRCC2. Consistent with the proposed causal link to FA, this gene is an essential non-redundant component of the RAD51 family of homologous repair proteins and its deficiency in a murine model has been shown to lead to a highly similar phenotype to that of this patient both at the cellular and organismal level.Conclusion This study implicates XRCC2 in the pathogenesis of FA and calls for further investigation of the potential contribution of XRCC2 mutations to the overall mutational load of FA.