Mitochondrial disease
Gene: PPCS
Now 6 individuals of paediatric onset DCM from 3 families with supporting biochemical and functional assays
PMID: 35616428 - an individual that died at 4 months from DCM and multiorgan failure with biallelic variants c.[613-3C>G]; [320_334del] p.[?]; [Pro107_Ala111del] with extracardiac manifestations including dysmorphic features and muscular hypotonia. Patient fibroblasts collected postmortem showed a significant decrease in Coenzyme A levels and the absence of PPCS protein expression.
PMID: 29754768 - 5 individuals from 2 families with severe DCM presenting at 2 weeks to 3 years old with biallelic variants (1 individual with p.[Ala180Pro]; [Pro107_Ala111del] & 4 individuals from a consanguineous family with p.[Glu233Val];[Glu233Val]). Studies in yeast and drosophila confirmed the pathogenicity of identified variants. Biochemical analysis revealed a decrease in CoA levels in the fibroblasts of all affected individuals.Created: 6 Apr 2023, 12:54 a.m. | Last Modified: 6 Apr 2023, 12:54 a.m.
Panel Version: 1.763
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cardiomyopathy, dilated, 2C, MIM# 618189
Publications
Five individuals from two unrelated families reported with missense variants. Functional studies in yeast to demonstrate impact of the variants on protein and cardiac dysfunction observed in Drosophila model.
Sources: Expert listCreated: 13 Apr 2020, 7:30 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cardiomyopathy, dilated, 2C, MIM# 618189
Publications
Publications for gene: PPCS were set to 29754768
Gene: ppcs has been classified as Green List (High Evidence).
Gene: ppcs has been classified as Amber List (Moderate Evidence).
Gene: ppcs has been classified as Amber List (Moderate Evidence).
gene: PPCS was added gene: PPCS was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene: PPCS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPCS were set to 29754768 Phenotypes for gene: PPCS were set to Cardiomyopathy, dilated, 2C, MIM# 618189 Review for gene: PPCS was set to AMBER