Cardiomyopathy_Paediatric

Gene: PPCS

Green List (high evidence)

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, 12:59 a.m. | Last Modified: 6 Apr 2023, 12:59 a.m.

Panel Version: 0.157

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cardiomyopathy, dilated, 2C, MIM# 618189

Publications

• 35616428
• 29754768