The MASP1gene helps the body build part of the immune system and plays a role in how the body forms during early development. Changes (mutations) in both copies of this gene can cause 3MC syndrome.
3MC syndrome is inherited in an autosomal recessive manner. This means that both parents of an affected child typically carry one non-working copy of the MASP1gene, but they do not show symptoms themselves. When both parents are carriers, each pregnancy has:
• a 25% chance for the child to be affected,
• a 50% chance to be a healthy carrier like the parents,
• and a 25% chance to be unaffected and not carry the gene change at all.
Once a genetic diagnosis is made in the family, prenatal testing or preimplantation genetic testing can be considered in future pregnancies.
MASP1