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The study aims to describe two novel cases of MRPS34-related disease and evaluate genotype-phenotype correlations in COXPD32.

June 10, 2026Open Access

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

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Randomized trial describes clinical and genetic features of MRPS34-related disease, indicating genotype-driven outcomes.

The study aims to describe two novel cases of MRPS34-related disease and evaluate genotype-phenotype correlations in COXPD32.
Clinical, radiological, biochemical, and molecular evaluations were conducted for two individuals presenting with Leigh syndrome.
Exome and genome sequencing identified biallelic pathogenic variants in MRPS34.
A systematic review of previously reported cases (n = 11) assessed genotype-phenotype correlations.
Individual 1, who died in infancy, was compound heterozygous for a splice-site variant (c.364 + 2 T>C) and a nonsense variant (c.94C>T).
Individual 2 survived into mid-childhood with homozygous hypomorphic variant c.322-10G>A.
Among 11 individuals, 100% had developmental delay, and homozygosity for c.322-10G>A correlated with longer survival.

Lundquist et al. (2026) studied this question.

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