Mannosyltransferase 8 deficiency (Q94034)

The CDG (Congenital disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ig is characterised by psychomotor delay, hypotonia, facial dysmorphism, failure to thrive and coagulation anomalies. It has been described in six children. Genital hypoplasia in the males and recurrent infections, probably associated with a decrease in immunoglobulin G levels, were also reported in some of the patients. The syndrome is associated with mutations in the ALG12 gene (localised to chromosome 22) leading to a deficiency in the endoplasmic reticulum enzyme alpha-1,6-mannosyl transferase.