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

被引：3

作者：

Dullea, Alexandra ^{[1
]}

Efimenko, Iakov ^{[1
]}

Firdaus, Fakiha ^{[1
]}

Griswold, Anthony ^{[1
]}

Arora, Himanshu ^{[1
]}

Masterson, Thomas ^{[1
]}

Ramasamy, Ranjith ^{[1
]}

机构：

[1] Univ Miami, 1120 NW 14th St,Suite 1563, Miami, FL 33136 USA

来源：

UROLOGY | 2022年 / 166卷

关键词：

GROWTH-FACTOR-BETA;

D O I：

10.1016/j.urology.2022.02.023

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

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. (c) 2022 Elsevier Inc.

引用

页码：76 / 78

页数：3

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