Mitochondrial disease

Gene: SLC25A26

Green List (high evidence)

Three families reported with biallelic SLC25A26 variants and combined oxidative phosphorylation deficiency. Patient 3 was delivered by caesarean section at 30 weeks 5 days after reduced fetal movements, polyhydramnios, fetal hydrops, and poor cardiotocography readings were noted from 27 weeks of gestational age. She had normal antropometric parameters but presented with a poor Apgar score (3-5-6) due to bradycardia, hypotonia, and respiratory insufficiency. Brain ultrasound demonstrated cystic necrosis of the germinal matrix (extensive symmetrical caudothalamic germinolysis) and mild striatal arteriopathy. The child died of respiratory and multiple organ failure at 5 days of age. Patient 1 presented at 4 weeks with acute circulatory collapse and pulmonary hypertension, and patient 2 presented at 11 hours after birth with severe lactic acidosis, an elevated pyruvate level, and respiratory failure. Patient 3 was homozygous for a canonical splice variant while patient 1 and 2 were homozygous and comp het for missense variants, respectively.

Created: 6 Apr 2022, 11:46 p.m. | Last Modified: 6 Apr 2022, 11:46 p.m.

Panel Version: 0.774

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 28, MIM# 616794

Publications

• 26522469