New C3 Mutation, Linked to Severe aHUS, Found in Infant in Israel

New C3 Mutation, Linked to Severe aHUS, Found in Infant in Israel

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New C3 Mutation, Linked to Severe aHUS, Found in Infant in Israel

A newly identified mutation in the C3 gene that causes severe, life-threatening atypical hemolytic uremic syndrome (aHUS) was found in a baby boy in Israel, scientists report. While C3 mutations leading to overactivation of complement protein C3 are associated with aHUS, they are usually found in only one of the gene’s two copies, known as heterozygous mutations. The reported case is thought to be the first of a homozygous mutation, or a disease-causing mutation in…

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