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
收藏
页码：76 / 78
页数：3
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