Peyronie's Disease (PD) is estimated to occur in up to 13% of males and has been associated with Dupuytren's Disease (DD). We identified three men with PD/DD and hypothesized that there may be a genetic association between the two diseases. Blood samples were collected from the participants and sent for whole genome sequencing. A rare non-synonymous mutation in the ALMS1 gene was identified in three men. Interestingly, ALMS1 is associated with TGF-b and aberrant fibrosis. This pilot study generates the hypothesis that mutations in ALMS1 may predispose patients to development of PD/DD.
Urology. 2022 Mar 12 [Epub ahead of print]
Alexandra Dullea, Iakov Efimenko, Fakiha Firdaus, Anthony Griswold, Himanshu Arora, Thomas Masterson, Ranjith Ramasamy
University of Miami, Miami, FL UNITED STATES., University of Miami, Miami, FL UNITED STATES. Electronic address: .