Professionals

The syndrome caused by mutations in the SC4MOLgene (also catalogued as MSMO1) is a multisystem disorder characterized by microcephaly, congenital cataracts, growth delay and psoriasiform dermatitis refractory to the usual treatments. The severity of the disease is variable and can include other autoinflammatory symptoms such as rheumatoid arthritis. It is inherited in an autosomal recessive fashion and is viewed as being exceedingly rare, with only a handful of published cases. The gene encodes a 4-methylsterol oxidase active in the cholesterol biosynthesis pathway.