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Biallelic Variants in GTPBP3: New Patients, Phenotypic Spectrum, and Outcome

Overview
Journal Ann Clin Transl Neurol
Specialty Neurology
Date 2024 Feb 8
PMID 38327089
Authors
Francesca Nardecchia
Rosalba Carrozzo
Alice Innocenti
Alessandra Torraco
Valerio Zaccaria
Teresa Rizza
Francesco Pisani
Enrico Bertini
Vincenzo Leuzzi
Affiliations
Soon will be listed here.
Abstract

Introduction: COXPD23 is a rare mitochondrial disease caused by biallelic pathogenic variants in GTPBP3. We report on two siblings with a mild phenotype.

Case Reports: The young boy presented with global developmental delay, ataxic gait and upper limbs tremor, and the older sister with absence seizures and hypertrophic cardiomyopathy. Respiratory chain impairment was confirmed in muscle.

Discussion: Reviewed cases point toward clustering around two prevalent phenotypes: an early-onset presentation with severe fatal encephalopathy and a late milder presentation with global developmental delay/ID and cardiopathy, with the latter as, is the main feature. Our patients showed an intermediate phenotype with intrafamilial variability.

Citing Articles

Expanding the phenotypic and genetic spectrum of GTPBP3 deficiency: findings from nine Chinese pedigrees.

Xie Y, Li K, Yang L, Zeng X, Chen Z, Ma X Orphanet J Rare Dis. 2024; 19(1):488.

PMID: 39719609 PMC: 11668094. DOI: 10.1186/s13023-024-03469-3.

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