Polymerase Gamma Mitochondrial DNA Depletion Syndrome Initially Presenting as Disproportionate Respiratory Distress in a Moderately Premature Neonate: A Case Report

Andrew D. Franklin; Bimal P. Chaudhari; Daniel C. Koboldt; Kerri Z. Machut

doi:10.3389/fgene.2021.664278

Polymerase Gamma Mitochondrial DNA Depletion Syndrome Initially Presenting as Disproportionate Respiratory Distress in a Moderately Premature Neonate: A Case Report

Andrew D. Franklin^*, Bimal P. Chaudhari, Daniel C. Koboldt, Kerri Z. Machut

^*Corresponding author for this work

Pediatrics

Research output: Contribution to journal › Article › peer-review

4 Scopus citations

Abstract

A 32-week premature infant presented with respiratory failure, later progressing to pulmonary hypertension (PH), liver failure, lactic acidosis, and encephalopathy. Using exome sequencing, this patient was diagnosed with a rare Polymerase Gamma (POLG)-related mitochondrial DNA (mtDNA) depletion syndrome. This case demonstrates that expanding the differential to uncommon diagnoses is important for complex infants, even in premature neonates whose condition may be explained partially by their gestational age (GA). It also shows that patients with complex neonatal diseases with significant family history may benefit from exome sequencing for diagnosis.

Original language	English (US)
Article number	664278
Journal	Frontiers in Genetics
Volume	12
DOIs	https://doi.org/10.3389/fgene.2021.664278
State	Published - Jun 14 2021

Funding

BPC and DCK are principal investigators in the Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children’s Hospital. The Institute is generously supported by the Nationwide Foundation Pediatric Innovation Fund.

Keywords

case report
mitochondria DNA depletion
polymerase gamma
pulmonary hypertension
whole exome sequencing

ASJC Scopus subject areas

Genetics(clinical)
Genetics
Molecular Medicine

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.3389/fgene.2021.664278

Cite this

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title = "Polymerase Gamma Mitochondrial DNA Depletion Syndrome Initially Presenting as Disproportionate Respiratory Distress in a Moderately Premature Neonate: A Case Report",

abstract = "A 32-week premature infant presented with respiratory failure, later progressing to pulmonary hypertension (PH), liver failure, lactic acidosis, and encephalopathy. Using exome sequencing, this patient was diagnosed with a rare Polymerase Gamma (POLG)-related mitochondrial DNA (mtDNA) depletion syndrome. This case demonstrates that expanding the differential to uncommon diagnoses is important for complex infants, even in premature neonates whose condition may be explained partially by their gestational age (GA). It also shows that patients with complex neonatal diseases with significant family history may benefit from exome sequencing for diagnosis.",

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AU - Koboldt, Daniel C.

AU - Machut, Kerri Z.

N1 - Funding Information: BPC and DCK are principal investigators in the Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children’s Hospital. The Institute is generously supported by the Nationwide Foundation Pediatric Innovation Fund. Publisher Copyright: © Copyright © 2021 Franklin, Chaudhari, Koboldt and Machut.

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AB - A 32-week premature infant presented with respiratory failure, later progressing to pulmonary hypertension (PH), liver failure, lactic acidosis, and encephalopathy. Using exome sequencing, this patient was diagnosed with a rare Polymerase Gamma (POLG)-related mitochondrial DNA (mtDNA) depletion syndrome. This case demonstrates that expanding the differential to uncommon diagnoses is important for complex infants, even in premature neonates whose condition may be explained partially by their gestational age (GA). It also shows that patients with complex neonatal diseases with significant family history may benefit from exome sequencing for diagnosis.

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Polymerase Gamma Mitochondrial DNA Depletion Syndrome Initially Presenting as Disproportionate Respiratory Distress in a Moderately Premature Neonate: A Case Report

Abstract

Funding

Keywords

ASJC Scopus subject areas

UN SDGs

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