| 项目编号 |
PRJCA023542 |
| 项目标题 |
A novel heterozygous mutation of PKD1 associated with Autosomal Dominant Polycystic Kidney Disease: the first reported in a Chinese family |
| 涉及领域 |
Medical |
| 数据类型 |
Exome
Variation
Whole exome sequencing
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| 物种名称 |
Homo sapiens
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| 描述信息 |
We report a case of heterozygous mutation of PKD1 associated with Autosomal Dominant Polycystic Kidney Disease, which is the first report on Chinese population. The proband was diagnosed as adult bilateral polycystic kidney and polycystic liver by computerized tomography (CT), clinically presented with hypertension and proteinuria. Whole-exome sequencing and Sanger sequencing identified that a heterozygous PKD1 mutation (c.9857T>C) was found in the proband and other clinically affected relatives. This variant has not been reported in multiple population frequency databases and described in the Clinvar and Mayo ADPKD Variant databases. The comprehensive analysis of family investigation, sequence conservation and multiple online software programs suggests that the variant is probably the cause of the occurrence and inheritance of ADPKD in proband pedigree. The newly discovered PKD1 variant in this study expand the understanding of ADPKD and provide valuable information for genetic counseling. |
| 样品范围 |
DNA extracted from the patient's peripheral blood |
| 发布日期 |
2024-02-08 |
| 项目资金来源 |
| 机构 |
项目类型 |
授权项目ID |
授权项目名称 |
| No funding support
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| 提交者 |
Yanan
Wang (wangyanan05312013@126.com)
|
| 提交单位 |
Luoyang Maternal and Child Health Hospital |
| 提交日期 |
2024-02-08 |
