Abstract
The Malpuech, Michels, Mingarelli, Carnevale (3MC) syndrome is a rare, autosomal recessive genetic- disorder associated with mutations in the MASP1/3, COLEC1,1 or COLEC10 genes. The number of 3MC patients with known mutations in these three genes reported so far remains very small. To date, 16 mutations in MASP-1/3, 12 mutations in COLEC11 and three in COLEC10 associated 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 between MASP1/3, COLEC10, and COLEC11 gene 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.
Highlights
The Malpuech, Michels, Mingarelli and Carnevale syndrome [1–4] is commonly called 3MC syndrome
The largest number of affected persons is located in the Middle East. 3MC syndrome disorders are caused by mutations in the mannose-binding lectin-associated serine protease (MASP)1/3 [5], COLEC11 [6], or COLEC10 [7]
Mannose-binding lectin-associated serine protease-1 (MASP-1) functions as a factor involved in the activation of complement, coagulation, and kallikrein–kinin systems
Summary
The Malpuech, Michels, Mingarelli and Carnevale syndrome [1–4] is commonly called 3MC syndrome. Since the clinical picture of patients suffering from Carnevale and Mingarelli syndromes overlapped with Michels (MIM 257920) and Malpuech syndromes (MIM 248340), it was suggested that all four disorders should be reclassified into one “3MC syndrome”. 26 persons from 20 families had mutations in the MASP1/3 (Table 1), 17 individuals from 12 families had mutations in the COLEC11 (Table 2), and three patients from two families had mutations in the COLEC10 gene (Table 3) Those mutations abort or impair function of their corresponding proteins, resulting in defective control of cell migration at an early stage of. Defense mechanisms, which seems to explain why immune system dysfunctions are not part of the
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