全基因组测序鉴定出 3 名同时患有 Peyronie 病和 Dupuytren 病男性患者的 ALMS1 基因中的新型杂合突变。
Whole-Genome Sequencing Identifies Novel Heterozygous Mutation in ALMS1 in Three Men With Both Peyronie's and Dupuytren's Disease.
机构信息
University of Miami, Miami, FL.
University of Miami, Miami, FL.
出版信息
Urology. 2022 Aug;166:76-78. doi: 10.1016/j.urology.2022.02.023. Epub 2022 Mar 12.
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.
摘要
Peyronie's 病（PD）估计在多达 13%的男性中发生，并且与 Dupuytren's 病（DD）有关。我们鉴定了 3 名 PD/DD 男性患者，推测这两种疾病之间可能存在遗传关联。从参与者采集血样并进行全基因组测序。在 3 名男性中发现了 ALMS1 基因中的罕见非同义突变。有趣的是，ALMS1 与 TGF-b 和异常纤维化有关。这项初步研究提出假说，即 ALMS1 中的突变可能使患者易患 PD/DD。
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