Whole exome sequencing reveals a stop-gain mutation of PKD2 in an autosomal dominant polycystic kidney disease family complicated with aortic dissection
Abstract Background Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder characterized by progressive cyst formation and expansion in the kidneys, which culminates in end-stage renal disease. Aortic dissection is a rare vascular complication of ADPKD and...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2018-01-01
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| Series: | BMC Medical Genetics |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s12881-018-0536-6 |
| _version_ | 1819062723120463872 |
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| author | Wenwen Zhang Qian Han Zhao Liu Wei Zhou Qing Cao Weimin Zhou |
| author_facet | Wenwen Zhang Qian Han Zhao Liu Wei Zhou Qing Cao Weimin Zhou |
| author_sort | Wenwen Zhang |
| collection | DOAJ |
| description | Abstract Background Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder characterized by progressive cyst formation and expansion in the kidneys, which culminates in end-stage renal disease. Aortic dissection is a rare vascular complication of ADPKD and related literature is currently limited. Case presentation In this report, we described a patient with asymptomatic Stanford B aortic dissection. Further investigation revealed a positive family history of ADPKD and normal renal function. Whole exome sequencing identified a stop-gain mutation c.1774C > T, p.Arg592Ter in the PKD2 gene that segregated in the family. To our knowledge, this is the first report of ADPKD complicated with aortic dissection caused by PKD2 mutation. Conclusions The case illustrates the importance of aorta imaging and molecular diagnosis in ADPKD patients in order to achieve early recognition of the deadly vascular complication. |
| first_indexed | 2024-12-21T15:03:18Z |
| format | Article |
| id | doaj.art-16d5aa6855974b949824f17c3bca2f2c |
| institution | Directory Open Access Journal |
| issn | 1471-2350 |
| language | English |
| last_indexed | 2024-12-21T15:03:18Z |
| publishDate | 2018-01-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genetics |
| spelling | doaj.art-16d5aa6855974b949824f17c3bca2f2c2022-12-21T18:59:32ZengBMCBMC Medical Genetics1471-23502018-01-011911510.1186/s12881-018-0536-6Whole exome sequencing reveals a stop-gain mutation of PKD2 in an autosomal dominant polycystic kidney disease family complicated with aortic dissectionWenwen Zhang0Qian Han1Zhao Liu2Wei Zhou3Qing Cao4Weimin Zhou5Department of Vascular Surgery, The Second Affiliated Hospital of Nanchang UniversityDepartment of Vascular Surgery, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical SchoolDepartment of Vascular Surgery, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical SchoolDepartment of Vascular Surgery, The Second Affiliated Hospital of Nanchang UniversityKey Laboratory of Molecular Medicine of Jiangxi ProvinceDepartment of Vascular Surgery, The Second Affiliated Hospital of Nanchang UniversityAbstract Background Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder characterized by progressive cyst formation and expansion in the kidneys, which culminates in end-stage renal disease. Aortic dissection is a rare vascular complication of ADPKD and related literature is currently limited. Case presentation In this report, we described a patient with asymptomatic Stanford B aortic dissection. Further investigation revealed a positive family history of ADPKD and normal renal function. Whole exome sequencing identified a stop-gain mutation c.1774C > T, p.Arg592Ter in the PKD2 gene that segregated in the family. To our knowledge, this is the first report of ADPKD complicated with aortic dissection caused by PKD2 mutation. Conclusions The case illustrates the importance of aorta imaging and molecular diagnosis in ADPKD patients in order to achieve early recognition of the deadly vascular complication.http://link.springer.com/article/10.1186/s12881-018-0536-6Autosomal dominant polycystic kidney diseaseAortic dissectionPKD2 mutationWhole exome sequencing |
| spellingShingle | Wenwen Zhang Qian Han Zhao Liu Wei Zhou Qing Cao Weimin Zhou Whole exome sequencing reveals a stop-gain mutation of PKD2 in an autosomal dominant polycystic kidney disease family complicated with aortic dissection BMC Medical Genetics Autosomal dominant polycystic kidney disease Aortic dissection PKD2 mutation Whole exome sequencing |
| title | Whole exome sequencing reveals a stop-gain mutation of PKD2 in an autosomal dominant polycystic kidney disease family complicated with aortic dissection |
| title_full | Whole exome sequencing reveals a stop-gain mutation of PKD2 in an autosomal dominant polycystic kidney disease family complicated with aortic dissection |
| title_fullStr | Whole exome sequencing reveals a stop-gain mutation of PKD2 in an autosomal dominant polycystic kidney disease family complicated with aortic dissection |
| title_full_unstemmed | Whole exome sequencing reveals a stop-gain mutation of PKD2 in an autosomal dominant polycystic kidney disease family complicated with aortic dissection |
| title_short | Whole exome sequencing reveals a stop-gain mutation of PKD2 in an autosomal dominant polycystic kidney disease family complicated with aortic dissection |
| title_sort | whole exome sequencing reveals a stop gain mutation of pkd2 in an autosomal dominant polycystic kidney disease family complicated with aortic dissection |
| topic | Autosomal dominant polycystic kidney disease Aortic dissection PKD2 mutation Whole exome sequencing |
| url | http://link.springer.com/article/10.1186/s12881-018-0536-6 |
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