Whole Exome Sequencing Identifies a Rare Mutation in NACAD as a Possible Cause of COVID Orchitis in Brothers

COVID orchitis (testicular pain) is reported in 10-15% of men with long COVID. We identified 2 siblings with COVID orchitis and hypothesized that genetic mutations are associated with susceptibility. Blood samples from 5 COVID-19 (+) men, three of whom had orchitis were evaluated by whole-exome-sequ...

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Autores principales: Reddy, Rohit, Efimenko, Iakov, Chertman, Willy, Kohn, Taylor, Diaz, Parris, Seetharam, Deepa, Khodamoradi, Kajal, Kresch, Eliyahu, Ramasamy, Ranjith
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier Inc. 2022
Materias:
Genomics Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8526121/
https://www.ncbi.nlm.nih.gov/pubmed/34678309
http://dx.doi.org/10.1016/j.urology.2021.09.021
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author Reddy, Rohit
Efimenko, Iakov
Chertman, Willy
Kohn, Taylor
Diaz, Parris
Seetharam, Deepa
Khodamoradi, Kajal
Kresch, Eliyahu
Ramasamy, Ranjith
author_facet Reddy, Rohit
Efimenko, Iakov
Chertman, Willy
Kohn, Taylor
Diaz, Parris
Seetharam, Deepa
Khodamoradi, Kajal
Kresch, Eliyahu
Ramasamy, Ranjith
author_sort Reddy, Rohit
collection PubMed
description COVID orchitis (testicular pain) is reported in 10-15% of men with long COVID. We identified 2 siblings with COVID orchitis and hypothesized that genetic mutations are associated with susceptibility. Blood samples from 5 COVID-19 (+) men, three of whom had orchitis were evaluated by whole-exome-sequencing. A rare deletion on chromosome 7 was found in NACAD among the 3 men with orchitis. Interestingly, circulating ACE2 levels was decreased in men with COVID orchitis. This pilot study generated the hypothesis that men who develop COVID orchitis could have underlying genetic variants and altered levels in circulating ACE2 that may increase their risk.
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spelling pubmed-85261212021-10-20 Whole Exome Sequencing Identifies a Rare Mutation in NACAD as a Possible Cause of COVID Orchitis in Brothers Reddy, Rohit Efimenko, Iakov Chertman, Willy Kohn, Taylor Diaz, Parris Seetharam, Deepa Khodamoradi, Kajal Kresch, Eliyahu Ramasamy, Ranjith Urology Genomics Case Report COVID orchitis (testicular pain) is reported in 10-15% of men with long COVID. We identified 2 siblings with COVID orchitis and hypothesized that genetic mutations are associated with susceptibility. Blood samples from 5 COVID-19 (+) men, three of whom had orchitis were evaluated by whole-exome-sequencing. A rare deletion on chromosome 7 was found in NACAD among the 3 men with orchitis. Interestingly, circulating ACE2 levels was decreased in men with COVID orchitis. This pilot study generated the hypothesis that men who develop COVID orchitis could have underlying genetic variants and altered levels in circulating ACE2 that may increase their risk. Elsevier Inc. 2022-01 2021-10-20 /pmc/articles/PMC8526121/ /pubmed/34678309 http://dx.doi.org/10.1016/j.urology.2021.09.021 Text en © 2021 Elsevier Inc. All rights reserved. Since January 2020 Elsevier has created a COVID-19 resource centre with free information in English and Mandarin on the novel coronavirus COVID-19. The COVID-19 resource centre is hosted on Elsevier Connect, the company's public news and information website. Elsevier hereby grants permission to make all its COVID-19-related research that is available on the COVID-19 resource centre - including this research content - immediately available in PubMed Central and other publicly funded repositories, such as the WHO COVID database with rights for unrestricted research re-use and analyses in any form or by any means with acknowledgement of the original source. These permissions are granted for free by Elsevier for as long as the COVID-19 resource centre remains active.
spellingShingle Genomics Case Report
Reddy, Rohit
Efimenko, Iakov
Chertman, Willy
Kohn, Taylor
Diaz, Parris
Seetharam, Deepa
Khodamoradi, Kajal
Kresch, Eliyahu
Ramasamy, Ranjith
Whole Exome Sequencing Identifies a Rare Mutation in NACAD as a Possible Cause of COVID Orchitis in Brothers
title Whole Exome Sequencing Identifies a Rare Mutation in NACAD as a Possible Cause of COVID Orchitis in Brothers
title_full Whole Exome Sequencing Identifies a Rare Mutation in NACAD as a Possible Cause of COVID Orchitis in Brothers
title_fullStr Whole Exome Sequencing Identifies a Rare Mutation in NACAD as a Possible Cause of COVID Orchitis in Brothers
title_full_unstemmed Whole Exome Sequencing Identifies a Rare Mutation in NACAD as a Possible Cause of COVID Orchitis in Brothers
title_short Whole Exome Sequencing Identifies a Rare Mutation in NACAD as a Possible Cause of COVID Orchitis in Brothers
title_sort whole exome sequencing identifies a rare mutation in nacad as a possible cause of covid orchitis in brothers
topic Genomics Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8526121/
https://www.ncbi.nlm.nih.gov/pubmed/34678309
http://dx.doi.org/10.1016/j.urology.2021.09.021
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