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全外显子组测序鉴定出输精管异常兄弟的罕见 CFTR 突变：病例研究。

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

机构信息

Desai Sethi Urology Institute, University of Miami, Miami, FL.

Washington State University Elson S. Floyd College of Medicine, Spokane, WA.

出版信息

Urology. 2023 May;175:74-76. doi: 10.1016/j.urology.2023.02.017. Epub 2023 Feb 27.

DOI:10.1016/j.urology.2023.02.017
PMID:36858322
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10238635/
Abstract

Congenital bilateral absence of the vas deferens (CBAVD) occurs in almost all men with cystic fibrosis. Prevailing theories 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 .

摘要

先天性双侧输精管缺如（CBAVD）几乎发生于所有囊性纤维化患者。关于该病理生理学的主流理论与囊性纤维化跨膜转导调节因子基因的致病突变有关，这些突变会导致输精管在子宫内发生先天缺失或闭锁。在本研究中，我们报告了两例先天性输精管异常的兄弟病例，他们携带一种罕见的囊性纤维化跨膜转导调节因子杂合变异 p.r347h，但无肺部或胃肠道囊性纤维化的迹象或症状。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3d2d/10238635/f5f86828466b/nihms-1878258-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3d2d/10238635/f5f86828466b/nihms-1878258-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3d2d/10238635/f5f86828466b/nihms-1878258-f0001.jpg

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1
Whole Exome Sequencing Identifies a Rare CFTR Mutation in Brothers With Anomalies of the Vas Deferens: A Case Study.全外显子组测序鉴定出输精管异常兄弟的罕见 CFTR 突变：病例研究。
Urology. 2023 May;175:74-76. doi: 10.1016/j.urology.2023.02.017. Epub 2023 Feb 27.
2
Compound heterozygous mutations in CFTR causing congenital bilateral absence of the vas deferens in a Chinese pedigree.一个中国家系中 CFTR 复合杂合突变导致先天性双侧输精管缺如。
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Congenital bilateral absence of the vas deferens: clinical characteristics, biological parameters, cystic fibrosis transmembrane conductance regulator gene mutations, and implications for genetic counseling.先天性双侧输精管缺如：临床特征、生物学参数、囊性纤维化跨膜传导调节因子基因突变及遗传咨询的意义
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Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation associated with a congenital bilateral absence of vas deferens.囊性纤维化跨膜传导调节因子（CFTR）基因突变与先天性双侧输精管缺如相关。
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本文引用的文献

1
How do we counsel men with obstructive azoospermia due to CF mutations?-a review of treatment options and outcomes.我们如何为因囊性纤维化（CF）基因突变导致梗阻性无精子症的男性提供咨询？——治疗选择与结果综述
Transl Androl Urol. 2021 Mar;10(3):1467-1478. doi: 10.21037/tau-19-681.
2
Genetics of the congenital absence of the vas deferens.先天性输精管缺失的遗传学研究。
Hum Genet. 2021 Jan;140(1):59-76. doi: 10.1007/s00439-020-02122-w. Epub 2020 Feb 5.
3
Cystic fibrosis transmembrane conductance regulator protein expression in the male excretory duct system during development.囊性纤维化跨膜电导调节蛋白在男性外分泌导管系统发育过程中的表达。
Hum Pathol. 2012 Mar;43(3):390-7. doi: 10.1016/j.humpath.2011.04.031. Epub 2011 Aug 15.
4
CFTR mutations and polymorphisms in male infertility.男性不育中的囊性纤维化跨膜传导调节因子（CFTR）突变与多态性
Int J Androl. 2004 Oct;27(5):251-6. doi: 10.1111/j.1365-2605.2004.00485.x.
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Genetic, andrological and clinical characteristics of patients with congenital bilateral absence of the vas deferens.先天性双侧输精管缺如患者的遗传学、男科学及临床特征
Int J Androl. 2001 Apr;24(2):73-9. doi: 10.1046/j.1365-2605.2001.00269.x.
6
Two mild cystic fibrosis-associated mutations result in severe cystic fibrosis when combined in cis and reveal a residue important for cystic fibrosis transmembrane conductance regulator processing and function.两个轻度的囊性纤维化相关突变在顺式组合时会导致严重的囊性纤维化，并揭示了一个对囊性纤维化跨膜传导调节因子加工和功能很重要的残基。
J Biol Chem. 2001 Mar 23;276(12):9045-9. doi: 10.1074/jbc.M008979200. Epub 2000 Dec 15.
7
Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens.先天性输精管缺如患者CFTR基因突变的异质性及临床相关性
Hum Reprod. 2000 Jul;15(7):1476-83. doi: 10.1093/humrep/15.7.1476.
8
Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens.与输精管相比，鼻上皮中完整外显子9 CFTR mRNA的比例更高。
Hum Mol Genet. 1997 Nov;6(12):2099-107. doi: 10.1093/hmg/6.12.2099.
9
Normal vas deferens in fetuses with cystic fibrosis.患有囊性纤维化胎儿的正常输精管。
J Urol. 1997 Oct;158(4):1549-52.
10
Mild CF in a delta F508/R347H compound heterozygote woman: does the manifestation of this genotype differ in the two sexes?一名携带ΔF508/R347H复合杂合子的女性患有轻度囊性纤维化：这种基因型在两性中的表现是否不同？
Clin Genet. 1996 Feb;49(2):103-5. doi: 10.1111/j.1399-0004.1996.tb04338.x.