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Case Reports
. 2022 Aug:166:76-78.
doi: 10.1016/j.urology.2022.02.023. Epub 2022 Mar 12.

Whole-Genome Sequencing Identifies Novel Heterozygous Mutation in ALMS1 in Three Men With Both Peyronie's and Dupuytren's Disease

Alexandra Dullea  1 , Iakov Efimenko  1 , Fakiha Firdaus  1 , Anthony Griswold  1 , Himanshu Arora  1 , Thomas Masterson  1 , Ranjith Ramasamy  2
Affiliations
Case Reports

Whole-Genome Sequencing Identifies Novel Heterozygous Mutation in ALMS1 in Three Men With Both Peyronie's and Dupuytren's Disease

Alexandra Dullea et al. Urology. 2022 Aug.

Abstract

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 3 men with PD/DD and hypothesized that there may be a genetic association between the 2 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 3 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.

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Figures

Figure 1.
Figure 1.
ALMS1 Pathway. The proposed role of ALMS1 in PD/DD via upregulation of TGF-B signaling leading to increased fibrosis.
See this image and copyright information in PMC

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