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

Alexandra Dullea; Iakov Efimenko; Fakiha Firdaus; Anthony Griswold; Himanshu Arora; Thomas Masterson; Ranjith Ramasamy

doi:10.1016/j.urology.2022.02.023

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

Alexandra Dullea, Iakov Efimenko, Fakiha Firdaus, Anthony Griswold, Himanshu Arora, Thomas Masterson, Ranjith Ramasamy

Research output: Contribution to journal › Article › peer-review

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.

Original language	English (US)
Journal	Urology
DOIs	https://doi.org/10.1016/j.urology.2022.02.023
State	Accepted/In press - 2022
Externally published	Yes

ASJC Scopus subject areas

Urology

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10.1016/j.urology.2022.02.023

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@article{35747da2f63d44ea89c2c49ae286fc38,

title = "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.",

author = "Alexandra Dullea and Iakov Efimenko and Fakiha Firdaus and Anthony Griswold and Himanshu Arora and Thomas Masterson and Ranjith Ramasamy",

note = "Funding Information: Funding Support: This work was supported by the Hayward Foundation, NIH health grant RO1 DK130991, and Clinician Scientist Development Grant from the American Cancer Society to Ranjith Ramasamy. Funders had no influence on study design, data, or publication of this work.. Publisher Copyright: {\textcopyright} 2022 Elsevier Inc.",

year = "2022",

doi = "10.1016/j.urology.2022.02.023",

language = "English (US)",

journal = "Urology",

issn = "0090-4295",

publisher = "Elsevier Inc.",

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TY - JOUR

T1 - Whole-Genome Sequencing Identifies Novel Heterozygous Mutation in ALMS1 in Three Men With Both Peyronie's and Dupuytren's Disease

AU - Dullea, Alexandra

AU - Efimenko, Iakov

AU - Firdaus, Fakiha

AU - Griswold, Anthony

AU - Arora, Himanshu

AU - Masterson, Thomas

AU - Ramasamy, Ranjith

N1 - Funding Information: Funding Support: This work was supported by the Hayward Foundation, NIH health grant RO1 DK130991, and Clinician Scientist Development Grant from the American Cancer Society to Ranjith Ramasamy. Funders had no influence on study design, data, or publication of this work.. Publisher Copyright: © 2022 Elsevier Inc.

PY - 2022

Y1 - 2022

N2 - 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.

AB - 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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DO - 10.1016/j.urology.2022.02.023

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SN - 0090-4295

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

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