Expanding the clinical and genetic spectrum of MRPS34-related disease: two new cases and systematic review.

Clinical and molecular spectrum expansion of *MRPS34*-related disease (mitoribosomal protein)

This JIMD Reports study describes two new patients with COXPD32 due to biallelic MRPS34 variants (mitoribosomal protein) and performs a systematic review of all 11 previously published cases. Clinical features include intellectual disability (100%), lactic acidosis (91%), and brainstem lesions (91%). A genotype-phenotype correlation links prolonged survival to homozygosity for the hypomorphic variant c.322-10G>A.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

With only 13 described cases including these two, MRPS34 remains an ultra-rare cause of Leigh syndrome. The identified genotype-phenotype correlation — hypomorphic variant linked to better survival — is valuable for prognosis and genetic counseling.

Clinical impact: 2/3 · Evidence strength: 2/3 · Novelty: 1/2 · Sample size: 1/1 · Publication status: 1/1 → Total: 7/10