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

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.

SUBMITTER: Dullea A

PROVIDER: S-EPMC9356975 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature

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

Dullea Alexandra A Efimenko Iakov I Firdaus Fakiha F Griswold Anthony A Arora Himanshu H Masterson Thomas T Ramasamy Ranjith R

Urology 20220312

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 h ...[more]

PMID: 35292292

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