MASP1 and 3MC syndrome: They described three homozygous missense mutations, all located within exon 12, encoding the MASP-3 protease domain, in the 3MC-syndrome-affected patients (c.1489C>T p.His497Tyr, c.1888T>C p.Cys630Arg, and c.1997G>A p.Gly666Glu).