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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Detalles Bibliográficos
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
Descripción
Sumario: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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