DEFICIENCY OF SUBUNIT 6 OF THE CONSERVED OLIGOMERIC GOLGI COMPLEX (COG6-CDG): SECOND PATIENT, DIFFERENT PHENOTYPE

The heritability of autism spectrum disorder is currently estimated at 55%. Identification of the molecular basis of patients with syndromic autism extends our understanding of the pathogenesis of autism in general. The objective of this study was to find the gene mutated in eight patients from a large kindred, who suffered from autism spectrum disorder, arthrogryposis and epilepsy.