PRODH
Homo sapiens
Gene Name: Proline dehydrogenase (oxidase) 1
Aliases: HSPOX2, PIG6, POX1, PRODH2, TP53I6,PRODH
Chromosome No: 22
Chromosome Band: 22q11.21
Genetic Category: Syndromic-Multigenic CNV-Genetic association--Rare single gene variant
Associated Syndrome(s): Hyperprolinemia type I
Aliases: HSPOX2, PIG6, POX1, PRODH2, TP53I6,PRODH
Chromosome No: 22
Chromosome Band: 22q11.21
Genetic Category: Syndromic-Multigenic CNV-Genetic association--Rare single gene variant
Associated Syndrome(s): Hyperprolinemia type I
Summary Statistics:
ASD Reports: 8
Recent Reports: 0
Annotated variants: 24
Associated CNVs: 9
Evidence score: null
ASD Reports: 8
Recent Reports: 0
Annotated variants: 24
Associated CNVs: 9
Evidence score: null
| Associated Disorders: |
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Relevance to Autism
Patients with hyperprolinemia type I caused by biallelic PRODH mutations have been shown to exhibit early onset and severe neurological features including autistic features (Afenjar et al., 2007).
Molecular Function
This gene encodes a mitochondrial protein that catalyzes the first step in proline degradation. Mutations in this gene are associated with hyperprolinemia type 1 [MIM:239500] and susceptibility to schizophrenia 4 (SCZD4) [MIM:600850]. This gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes, DiGeorge and CATCH22.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Early neurological phenotype in 4 children with biallelic PRODH mutations.
Hyperprolinemia type I
Positive Association
Association between autism spectrum disorder in individuals with velocardiofacial (22q11.2 deletion) syndrome and PRODH and COMT genotypes.
VCFS
ASD
Negative Association
The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.
ASD
Support
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
ASD
Support
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.
ASD
Support
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: experience of two clinical units and 216 patients.
ID
Epilepsy/seizures, schizophrenia
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN639R001b
missense_variant
c.1397C>T
p.Thr466Met
Familial
Maternal
Simplex
GEN639R002a
missense_variant
c.1322T>C
p.Val441Ala
Familial
Maternal
Simplex
GEN639R004a
missense_variant
c.1397C>T
p.Thr466Met
Familial
Both parents
Simplex
GEN639R004b
missense_variant
c.1357C>T
p.Arg453Cys
Familial
Paternal
Simplex
Common
No Common Variants Available
