FBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review

Ballout, Rami A; Al Alam, Chadi; Bonnen, Penelope E; Huemer, Martina; El-Hattab, Ayman W; Shbarou, Rolla

doi:10.3389/fgene.2019.00039

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Ballout, R. A., Al Alam, C., Bonnen, P. E., Huemer, M., El-Hattab, A. W., & Shbarou, R. (2019). FBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review. Frontiers in Genetics, 10, 39. https://doi.org/10.3389/fgene.2019.00039

Abstract

Mitochondrial DNA depletion syndromes (MTDPS) are a group of rare genetic disorders caused by defects in multiple genes involved in mitochondrial DNA (mtDNA) maintenance. Among those, FBXL4 mutations result in the encephalomyopathic mtDNA depletion syndrome 13 (MTDPS13; OMIM #615471), which commonly presents as a combination of failure to thrive, neurodevelopmental delays, encephalopathy, hypotonia, and persistent lactic acidosis. We report here the case of a Lebanese infant presenting to us with profound neurodevelopmental delays, ge