DPYD
Homo sapiens
Gene Name: dihydropyrimidine dehydrogenase
Aliases: DHP; DPD; MGC70799; MGC132008
Chromosome No: 1
Chromosome Band: 1p21.3
Genetic Category: Rare Single Gene variant-Genetic association-Syndromic
Aliases: DHP; DPD; MGC70799; MGC132008
Chromosome No: 1
Chromosome Band: 1p21.3
Genetic Category: Rare Single Gene variant-Genetic association-Syndromic
Summary Statistics:
ASD Reports: 15
Recent Reports: 1
Annotated variants: 30
Associated CNVs: 9
Evidence score: 2
ASD Reports: 15
Recent Reports: 1
Annotated variants: 30
Associated CNVs: 9
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
1p21.3 microdeletions affecting DPYD have been identified in individuals with ASD (Carter et al., 2011), intellectual disability (Willemsen et al., 2011), and syndromic obesity (D'Angelo et al., 2015); inherited missense variants in this gene have alo observed (Carter et al., 2011; Li et al., 2017).
Molecular Function
The encoded protein is a pyrimidine catabolic enzyme and participates in the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Biallelic mutations in this gene are responsible for dihydropyrimidine dehydrogenase (DPD) deficiency (OMIM 274270).
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Structural variation of chromosomes in autism spectrum disorder.
ASD
Positive Association
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
ASD, ADHD, BPD, MDD, SCZ
Positive Association
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.
SCZ
Support
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.
ASD
Support
Two New Cases of 1p21.3 Deletions and an Unbalanced Translocation t(8;12) among Individuals with Syndromic Obesity.
Obesity
DD, ID, autistic features
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability.
ID
Autistic features
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder.
ASD
Support
The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.
Epilepsy/seizures
DD
Support
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.
ASD
Highly Cited
Familial deficiency of dihydropyrimidine dehydrogenase. Biochemical basis for familial pyrimidinemia and severe 5-fluorouracil-induced toxicity.
Recent Recommendation
A neonate with recurrent vomiting and generalized hypotonia diagnosed with a deficiency of dihydropyrimidine dehydrogenase.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN074R024
frameshift_variant
c.2580del
p.Lys863AsnfsTer6
Familial
Paternal
Multiplex
GEN074R026
frameshift_variant
c.1155_1156del
p.Cys385Ter
Familial
Maternal
Multiplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN074C001
intergenic_variant
rs2802535
T/C
Pyschiatrics Genomic Consortium (PGC): 33,332 cases (with ASD, ADHD, bipolar disorder, major depressive disorder, and schizophrenia) and 27,888 controls
Discovery
GEN074C002
intergenic_variant
rs2660304
G>T
40,675 SCZ cases and 64,643 controls (CLOZUK and independent PGC datasets)
Discovery
GEN074C003
intron_variant
rs11165867
c.1906-30051G>A;c.1795-30051G>A;c.1690-30051G>A;c.1411-30051G>A
40,675 SCZ cases and 64,643 controls (CLOZUK and independent PGC datasets)
Discovery
