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Relevance to Autism

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.
ASD
Negative Association
Investigation of two variants in the DOPA decarboxylase gene in patients with autism.
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Support
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
DD
Support
Exploring the biological role of postzygotic and germinal de novo mutations in ASD
ASD
Support
DD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN378R001 
 missense_variant 
 c.1331T>C 
 p.Phe444Ser 
 De novo 
  
 Simplex 
 GEN378R002a 
 missense_variant 
 c.1040G>A 
 p.Arg347Gln 
 Familial 
 Both parents 
 Simplex 
 GEN378R003 
 missense_variant 
 c.759T>A 
 p.Asn253Lys 
 De novo 
  
 Simplex 
 GEN378R004 
 frameshift_variant 
 c.480del 
 p.Thr161ProfsTer3 
 Familial 
 Maternal 
 Multiplex 
 GEN378R005a 
 missense_variant 
 c.1234C>T 
 p.Arg412Trp 
 Familial 
 Both parents 
 Simplex 
  et al.  

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN378C001 
 intron_variant 
 rs6592961 
 c.715-1133C>T;c.601-1133C>T;c.571-1133C>T;c.481-1133C>T;c.436-1133C>T 
 G/A 
 326 unrelated autistic patients and 350 gender-matched controls from Spain 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
7
Deletion
 2
 
7
Duplication
 1
 
7
Duplication
 1
 
7
Duplication
 1
 
7
Deletion
 2
 

No Animal Model Data Available

No PIN Data Available
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