Whole Exome Sequencing Identifies a Rare CFTR Mutation in Brothers With Anomalies of the Vas Deferens: A Case Study

被引：0

作者：

Campbell, Katherine

Dullea, Alexandra

Schuppe, Kyle

Ghomeshi, Armin

Ramsoomair, Christian

Griswold, Anthony J.

Khodamoradi, Kajal

Ramasamy, Ranjith ^{[1
]}

机构：

[1] Univ Miami, Desai Sethi Urol Inst, 1150 NW 14th St, Miami, FL 33136 USA

来源：

UROLOGY | 2023年 / 175卷

关键词：

CONGENITAL BILATERAL ABSENCE; CYSTIC-FIBROSIS; GENE; MEN;

D O I：

10.1016/j.urology.2023.02.017

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：

Congenital bilateral absence of the vas deferens (CBAVD) occurs in almost all men with cystic fibrosis. Prevailing theo-ries on this pathophysiology relate to pathogenic mutations in the cystic fibrosis transmembrane regulator gene leading to agenesis or obliteration of vas deferens in utero. In this study, we present a case of two brothers with congenital anomalies of the vas deferens who were found to have carried a rare, heterozygous cystic fibrosis transmembrane regulator variant p. r347h without pulmonary or gastrointestinal signs or symptoms of cystic fibrosis . UROLOGY 175: 74-76, 2023.& COPY; 2023 Elsevier Inc.

引用

页码：74 / 76

页数：3

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