MASP1 and 3MC syndrome: Rare mutations in a highly conserved region of exon 12 of the MASP1 gene, which is exclusive of MASP-3 and encodes the serine protease domain of this protein, cause the 3MC1 (Malpuech-Michels-Mingarelli-Carnevale) syndrome, pointing to an important role in ectodermal development [29].