Mitochondrial disease

Gene: PPA2

Green List (high evidence)

A series of 34 unreported individuals (all but one affected) from 20 families. Twenty three died before the age of 2 years while 5 died between 14 and 16 years. Within these 28 cases, 15 died of sudden cardiac arrest and 13 of acute heart failure. One case was diagnosed prenatally with cardiomyopathy. Four teenagers drank alcohol before sudden cardiac arrest. Progressive neurological signs were observed in 2/6 surviving individuals. They report 12 novel pathogenic PPA2 variants and 10 previously published variants. For 11 variants, recombinant PPA2 enzyme activities were significantly decreased and sensitive to temperature, compared to wild-type PPA2 enzyme activity.

Created: 5 Jan 2022, 7:30 a.m. | Last Modified: 5 Jan 2022, 7:30 a.m.

Panel Version: 0.10511

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sudden cardiac failure, alcohol-induced, 617223; Sudden cardiac failure, infantile, 617222

Publications

• 27523598
• 34400813