American Journal of Medical Genetics Features Baylor Genetics for Research on Unusual Cause of Developmental Pulmonary Hypertension

Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension

Alona Birjiniuk, Kevin E. Glinton, Natalie Villafranco, Suzanne Boyer, Jason Laufman, Elizabeth Mizerik, Daryl Scott, Sarah H. Elsea, Csaba Galambos, Nidhy P. Varghese, Fernando Scaglia

Published: January 22, 2020


Pulmonary hypertension (pHTN) is a severe, life‐threatening disease, which can be idiopathic or associated with an underlying syndrome or genetic diagnosis. Here we discuss a patient who presented with severe pHTN and was later found to be compound heterozygous for pathogenic variants in the NFU1 gene causing multiple mitochondrial dysfunctions syndrome 1 (MMDS1). Review of autopsy slides from an older sibling revealed the same diagnosis along with pulmonary findings consistent with a developmental lung disorder. In particular, these postmortem, autopsy findings have not been described previously in humans with this mitochondrial syndrome and suggest a possible developmental basis for the severe pHTN seen in this disease. Given the rarity of patients reported with MMDS1, we review the current state of knowledge of this disease and our novel management strategies for pHTN and MMDS1‐associated complications in this population.

American Journal of Medical Genetics (2020)


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