Expanding the MRPS34 Genotype-Phenotype Correlation: Two Novel Cases and a Cohort Review.

Biallelic pathogenic variants in MRPS34 cause Combined Oxidative Phosphorylation Deficiency 32 (COXPD32), a rare mitochondrial disorder within the Leigh syndrome spectrum (leigh syndrome spectrum), ranging from fatal in infancy to adult survival.

The objective is to describe two new individuals with MRPS34 -related disease and expand the clinical, genetic, and phenotypic spectrum of COXPD32.

Exome and genome sequencing identified presumed biallelic MRPS34 variants.

Homozygosity for c.322-10G>A, p.(?) correlated with longer survival.