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Molecular Underpinnings of Severe Coronavirus Disease 2019

Molecular Underpinnings of Severe Coronavirus Disease 2019 Opinion EDITORIAL Robert M. Plenge, MD, PhD The molecular underpinnings of severe acute respiratory hemizygous deletion likely leading to a predicted total loss syndrome coronavirus 2 (SARS-CoV-2) infection and the dis- of function of TLR7 by introducing a premature termination ease it causes, coronavirus disease 2019 (COVID-19), are poorly codon (c.2129_2132del; p.[Gln710Argfs*18]). The same muta- tion, which was confirmed by Sanger sequencing, was iden- understood. Inherited genetic variation is an important tool to disentangle cause and con- tified in a hemizygous state in the deceased male sibling and sequence, which in turn can in a heterozygous state in the uninfected mother, but not the Related article page 663 generate insights to guide father, consistent with X-linked inheritance from the mater- therapeutic interventions to prevent or treat disease. To date, nal lineage. The mutation was not present in any individual little is known about genetic susceptibility to SARS-CoV-2 in- from the gnomAD database, indicating that the mutation is 1,2 fection and severe forms of COVID-19. extremely rare in the general population. Functional studies In this issue of JAMA, van der Made and colleagues de- using peripheral blood mononuclear cells (PBMCs) from scribe 2 independent families with rare germline variants in http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png JAMA American Medical Association

Molecular Underpinnings of Severe Coronavirus Disease 2019

JAMA , Volume 324 (7) – Aug 18, 2020

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Publisher
American Medical Association
Copyright
Copyright 2020 American Medical Association. All Rights Reserved.
ISSN
0098-7484
eISSN
1538-3598
DOI
10.1001/jama.2020.14015
Publisher site
See Article on Publisher Site

Abstract

Opinion EDITORIAL Robert M. Plenge, MD, PhD The molecular underpinnings of severe acute respiratory hemizygous deletion likely leading to a predicted total loss syndrome coronavirus 2 (SARS-CoV-2) infection and the dis- of function of TLR7 by introducing a premature termination ease it causes, coronavirus disease 2019 (COVID-19), are poorly codon (c.2129_2132del; p.[Gln710Argfs*18]). The same muta- tion, which was confirmed by Sanger sequencing, was iden- understood. Inherited genetic variation is an important tool to disentangle cause and con- tified in a hemizygous state in the deceased male sibling and sequence, which in turn can in a heterozygous state in the uninfected mother, but not the Related article page 663 generate insights to guide father, consistent with X-linked inheritance from the mater- therapeutic interventions to prevent or treat disease. To date, nal lineage. The mutation was not present in any individual little is known about genetic susceptibility to SARS-CoV-2 in- from the gnomAD database, indicating that the mutation is 1,2 fection and severe forms of COVID-19. extremely rare in the general population. Functional studies In this issue of JAMA, van der Made and colleagues de- using peripheral blood mononuclear cells (PBMCs) from scribe 2 independent families with rare germline variants in

Journal

JAMAAmerican Medical Association

Published: Aug 18, 2020

References