Association of Polymorphisms ofMASP1/3,COLEC10, andCOLEC11Genes with 3MC Syndrome

The Malpuech, Michels, Mingarelli, Carnevale (3MC) syndrome is a rare, autosomal recessive genetic- disorder associated with mutations in theMASP1/3,COLEC1,1orCOLEC10genes. The number of 3MC patients with known mutations in these three genes reported so far remains very small. To date, 16 mutations inMASP-1/3, 12 mutations inCOLEC11and three inCOLEC10associated with 3MC syndrome have been identified. Their products play an essential role as factors involved in the activation of complement via the lectin or alternative (MASP-3) pathways. Recent data indicate that mannose-binding lectin-associated serine protease-1 (MASP-1), MASP-3, collectin kidney-1 (collectin-11) (CL-K1), and collectin liver-1 (collectin-10) (CL-L1) also participate in the correct migration of neural crest cells (NCC) during embryogenesis. This is supported by relationships betweenMASP1/3,COLEC10,andCOLEC11gene mutations and the incidence of 3MC syndrome, associated with craniofacial abnormalities such as radioulnar synostosis high-arched eyebrows, cleft lip/palate, hearing loss, and ptosis.