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

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 synd...

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Bibliographic Details
Published inFrontiers in genetics Vol. 12
Main Authors Franklin, Andrew D., Chaudhari, Bimal P., Koboldt, Daniel C., Machut, Kerri Z.
Format Journal Article
LanguageEnglish
Published Frontiers Media S.A 14.06.2021
Subjects
case report
Genetics
mitochondria DNA depletion
polymerase gamma
pulmonary hypertension
whole exome sequencing
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Summary: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.
Bibliography:Reviewed by: William Copeland, National Institutes of Health (NIH), United States; Emanuela Bottani, University of Verona, Italy
This article was submitted to Genetics of Common and Rare Diseases, a section of the journal Frontiers in Genetics
Edited by: Enrico Baruffini, University of Parma, Italy
ISSN:1664-8021
1664-8021
DOI:10.3389/fgene.2021.664278