دورية أكاديمية
[The application value of whole exome sequencing technology in diagnosis of hereditary renal cysts].
| العنوان: | [The application value of whole exome sequencing technology in diagnosis of hereditary renal cysts]. |
|---|---|
| المؤلفون: | Duan HK; Center of Genetic and Prenatal Diagnosis, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China., Bai Y; Center of Genetic and Prenatal Diagnosis, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China., Xia YJ; Center of Genetic and Prenatal Diagnosis, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China., Wang L; Center of Genetic and Prenatal Diagnosis, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China., Kong XD; Center of Genetic and Prenatal Diagnosis, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China. |
| المصدر: | Zhonghua yi xue za zhi [Zhonghua Yi Xue Za Zhi] 2024 Jul 23; Vol. 104 (28), pp. 2642-2647. |
| نوع المنشور: | English Abstract; Journal Article |
| اللغة: | Chinese |
| بيانات الدورية: | Publisher: Zhonghua yi xue hui Country of Publication: China NLM ID: 7511141 Publication Model: Print Cited Medium: Print ISSN: 0376-2491 (Print) Linking ISSN: 03762491 NLM ISO Abbreviation: Zhonghua Yi Xue Za Zhi Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Beijing : Zhonghua yi xue hui Original Publication: Beijing : Zhonghua yi xue hui. |
| مواضيع طبية MeSH: | Exome Sequencing* , DNA Copy Number Variations* , Kidney Diseases, Cystic*/genetics , Kidney Diseases, Cystic*/diagnosis, Humans ; Male ; Female ; Middle Aged ; Adult ; Retrospective Studies ; Adolescent ; Child ; Child, Preschool ; Infant ; Young Adult ; TRPP Cation Channels/genetics ; Mutation |
| مستخلص: | The data of 57 renal cyst patients who visited the First Affiliated Hospital of Zhengzhou University from January 2023 to March 2024 were retrospectively analyzed. The age of patients ranged from three months to 60 years old, with 31 males and 26 females. The whole exome sequencing (WES) detected pathogenic or suspected pathogenic (P/LP) variants in 48 renal cystic probands, with a detection rate of 84.2% (48/57), including PKD1, PKD2, PKHD1, LRP5, COL4A4 and ALG8 gene variants as well as copy number variations (CNV). In addition, four PKD1 gene variants of uncertain significance (VUS) were detected. In five WES negative families, one PKD1 nonsense variation was detected through long-range PCR (LR-PCR)+Oxford nanopore technologies, and one heterozygous deletion in exon 22 of PKD1 gene was detected through multiplex ligation-dependent probe amplification (MLPA). In summary, WES can detect multiple types of variations, which is helpful for early diagnosis and prognosis prediction of renal cyst patients. However, there is still a risk of failing to detect PKD1 gene by WES, therefore, healthcare practitioners should beware of the negative results of WES. |
| فهرسة مساهمة: | Local Abstract: [Publisher, Chinese] 回顾性分析2023年1月至2024年3月于郑州大学第一附属医院就诊的57个肾囊肿患者家系的临床及分子遗传学资料。先证者年龄3个月~60岁，男31例，女26例。其中48个家系通过全外显子组测序（WES）检测到致病性或疑似致病性变异（P/LP），检出率为84.2%（48/57），包括PKD1、PKD2、PKHD1、LRP5、COL4A4、ALG8基因变异及拷贝数变异（CNV），同时检测到4个PKD1基因意义未明变异（VUS）。在5个WES检测阴性家系中，通过长片段PCR（LR-PCR）+Oxford 纳米孔测序检出1例PKD1基因的无义变异，通过多重连接依赖探针扩增（MLPA）技术检测出1例PKD1基因第22外显子杂合缺失变异。可见，WES可以检出肾囊肿相关基因多种变异类型，有助于肾囊肿患者的早期诊断和预后预测，但对PKD1基因的检测仍有一定漏诊风险，对于WES检测阴性家系仍需警惕。. |
| المشرفين على المادة: | 0 (TRPP Cation Channels) 0 (polycystic kidney disease 1 protein) |
| تواريخ الأحداث: | Date Created: 20240717 Date Completed: 20240717 Latest Revision: 20240717 |
| رمز التحديث: | 20240718 |
| DOI: | 10.3760/cma.j.cn112137-20240208-00299 |
| PMID: | 39019822 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 0376-2491 |
|---|---|
| DOI: | 10.3760/cma.j.cn112137-20240208-00299 |