{"id":253,"date":"2012-01-10T19:37:17","date_gmt":"2012-01-10T19:37:17","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=253"},"modified":"2026-02-25T20:46:04","modified_gmt":"2026-02-25T20:46:04","slug":"exome-sequencing-reveals-a-novel-fanconi-group-defined-by-xrcc2-mutation-2","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2012\/01\/10\/exome-sequencing-reveals-a-novel-fanconi-group-defined-by-xrcc2-mutation-2\/","title":{"rendered":"Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation (Contributed by Prof. Fowzan S Alkuraya)"},"content":{"rendered":"

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.\u00a0 In a child with classical Fanconi anemia and in whom all known Fanconi genes have been ruled out, we performed exome sequencing.\u00a0 We show that by filtering the resulting variants by this child\u2019s 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.\u00a0 The animal model is consistent with this mutation being causal to our patient\u2019s Fanconi anemia. (http:\/\/jmg.bmj.com\/content\/early\/2012\/01\/09\/jmedgenet-2011-100585.abstract?papetoc<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

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.\u00a0 In a child with classical Fanconi anemia and in whom all known Fanconi genes have been ruled out, we performed exome sequencing.\u00a0 We show that by filtering the resulting variants […]<\/p>\n

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