Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
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.

PubMed Disclaimer

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

Similar articles

See all similar articles

Cited by

References

    1. Nehra A, Alterowitz R, Culkin DJ, et al. Peyronie’s Disease: AUA Guideline. J Urol. Sep 2015;194(3):745–53. doi:10.1016/j.juro.2015.05.098 - DOI - PMC - PubMed
    1. Al-Thakafi S, Al-Hathal N. Peyronie’s disease: a literature review on epidemiology, genetics, pathophysiology, diagnosis and work-up. Transl Androl Urol. Jun 2016;5(3):280–9. doi:10.21037/tau.2016.04.05 - DOI - PMC - PubMed
    1. De Rose AF, Mantica G, Bocca B, Szpytko A, Van der Merwe A, Terrone C. Supporting the role of penile trauma and micro-trauma in the etiology of Peyronie’s disease. Prospective observational study using the electronic microscope to examine two types of plaques. Aging Male. Dec 2020;23(5):740–745. doi:10.1080/13685538.2019.1586870 - DOI - PubMed
    1. Nugteren HM, Nijman JM, de Jong IJ, van Driel MF. The association between Peyronie’s and Dupuytren’s disease. Int J Impot Res. 2011 Jul–Aug 2011;23(4):142–5. doi:10.1038/ijir.2011.18 - DOI - PubMed
    1. Bias WB, Nyberg LM, Hochberg MC, Walsh PC. Peyronie’s disease: a newly recognized autosomal-dominant trait. Am J Med Genet. Jun 1982;12(2):227–35. doi:10.1002/ajmg.1320120213 - DOI - PubMed

Publication types