MASP1is one of the three genes implicated in 3MC syndrome, a rare autosomal recessive multisystem disorder. The syndrome encompasses four previously distinct syndromes—Malpuech, Michels, Mingarelli, and Carnevale—which were unified based on their overlapping clinical features. Biallelic pathogenic variants in MASP1, COLEC11, or COLEC10disrupt the lectin complement pathway and affect embryonic morphogenesis, particularly neural crest cell migration.
The clinical presentation of 3MC syndrome is highly variable, but frequently involves craniofacial anomalies, hearing impairment, genital and renal abnormalities, and musculoskeletal findings. Due to its rarity, the exact prevalence is unknown, but the condition appears more frequently in populations with high rates of consanguineous unions. Inheritance is autosomal recessive.
MASP1