A significant association was obtained between the DDC gene and autism in the single-marker analysis (rs6592961, P = 0.00047) in a case-control genetic association study consisting of 326 unrelated autistic patients and 350 gender-matched controls from Spain (Toma et al., 2012). These findings suggest that common allelic variants in the DDC gene may be involved in autism susceptibility.
Molecular Function
The encoded protein catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine. Defects in this gene are the cause of aromatic L-amino-acid decarboxylase deficiency (AADCD). AADCD deficiency is an inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Neurotransmitter systems and neurotrophic factors in autism: association study of 37 genes suggests involvement of DDC.
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
