A novel mutation of KCNJ1 identified in an affected child with nephrolithiasis
Abstract Nephrolithiasis is not common in children, but the incidence is gradually increased in these years. Urinary tract malformations, urinary infection, dietary habits, geographic region and genetic factor are involved in the etiology of nephrolithiasis. For the affected child, it is especially...
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| Format: | Article |
| Language: | English |
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BMC
2022-06-01
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| Series: | BMC Nephrology |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12882-022-02783-x |
| _version_ | 1828469057776517120 |
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| author | Saisai Yang Guanghui Yao Xin Chen Huirong Shi Chihhong Lou Shumin Ren Zhihui Jiao Cong Wang Xiangdong Kong Qinghua Wu |
| author_facet | Saisai Yang Guanghui Yao Xin Chen Huirong Shi Chihhong Lou Shumin Ren Zhihui Jiao Cong Wang Xiangdong Kong Qinghua Wu |
| author_sort | Saisai Yang |
| collection | DOAJ |
| description | Abstract Nephrolithiasis is not common in children, but the incidence is gradually increased in these years. Urinary tract malformations, urinary infection, dietary habits, geographic region and genetic factor are involved in the etiology of nephrolithiasis. For the affected child, it is especially important to elucidate the etiology, which may provide an accurate diagnosis, a personalized therapy and effective follow-up strategy. Here to seek the etiology of a ten-year-old boy incidentally found with nephrolithiasis, next generation sequencing (NGS) including a panel with 248 genes involved in hereditary kidney diseases was performed for the boy and identified two mutations of KCNJ1, c.89G > A (p.C30Y) and c.65G > T (p.R22M), and the later was a novel missense mutation originated from his father. The child was confirmed with type II Bartter syndrome (BS) caused by KCNJ1 mutations. Our study suggests that BS may be difficult to get diagnosed at an early stage based on clinical manifestations or biochemical laboratory tests, and NGS is an efficient way to determine the etiology and provide further treatment and guide fertility counseling for the affected family. |
| first_indexed | 2024-12-11T04:32:04Z |
| format | Article |
| id | doaj.art-777660839ad44a8aabd1a56923ad9b4e |
| institution | Directory Open Access Journal |
| issn | 1471-2369 |
| language | English |
| last_indexed | 2024-12-11T04:32:04Z |
| publishDate | 2022-06-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Nephrology |
| spelling | doaj.art-777660839ad44a8aabd1a56923ad9b4e2022-12-22T01:20:49ZengBMCBMC Nephrology1471-23692022-06-012311710.1186/s12882-022-02783-xA novel mutation of KCNJ1 identified in an affected child with nephrolithiasisSaisai Yang0Guanghui Yao1Xin Chen2Huirong Shi3Chihhong Lou4Shumin Ren5Zhihui Jiao6Cong Wang7Xiangdong Kong8Qinghua Wu9Department of Obstetrics and Gynecology, Center of Genetics and Prenatal Diagnosis, The First Affiliated Hospital of Zhengzhou UniversityDepartment of Obstetrics and Gynecology, Center of Genetics and Prenatal Diagnosis, The First Affiliated Hospital of Zhengzhou UniversityDepartment of Obstetrics and Gynecology, Center of Genetics and Prenatal Diagnosis, The First Affiliated Hospital of Zhengzhou UniversityDepartment of Obstetrics and Gynecology, Center of Genetics and Prenatal Diagnosis, The First Affiliated Hospital of Zhengzhou UniversityGene Editing and Viral Vector Core, City of Hope Medical CenterDepartment of Obstetrics and Gynecology, Center of Genetics and Prenatal Diagnosis, The First Affiliated Hospital of Zhengzhou UniversityDepartment of Obstetrics and Gynecology, Center of Genetics and Prenatal Diagnosis, The First Affiliated Hospital of Zhengzhou UniversityDepartment of Obstetrics and Gynecology, Center of Genetics and Prenatal Diagnosis, The First Affiliated Hospital of Zhengzhou UniversityDepartment of Obstetrics and Gynecology, Center of Genetics and Prenatal Diagnosis, The First Affiliated Hospital of Zhengzhou UniversityDepartment of Obstetrics and Gynecology, Center of Genetics and Prenatal Diagnosis, The First Affiliated Hospital of Zhengzhou UniversityAbstract Nephrolithiasis is not common in children, but the incidence is gradually increased in these years. Urinary tract malformations, urinary infection, dietary habits, geographic region and genetic factor are involved in the etiology of nephrolithiasis. For the affected child, it is especially important to elucidate the etiology, which may provide an accurate diagnosis, a personalized therapy and effective follow-up strategy. Here to seek the etiology of a ten-year-old boy incidentally found with nephrolithiasis, next generation sequencing (NGS) including a panel with 248 genes involved in hereditary kidney diseases was performed for the boy and identified two mutations of KCNJ1, c.89G > A (p.C30Y) and c.65G > T (p.R22M), and the later was a novel missense mutation originated from his father. The child was confirmed with type II Bartter syndrome (BS) caused by KCNJ1 mutations. Our study suggests that BS may be difficult to get diagnosed at an early stage based on clinical manifestations or biochemical laboratory tests, and NGS is an efficient way to determine the etiology and provide further treatment and guide fertility counseling for the affected family.https://doi.org/10.1186/s12882-022-02783-xNephrolithiasisNext generation sequencingKCNJ1Bartter syndrome |
| spellingShingle | Saisai Yang Guanghui Yao Xin Chen Huirong Shi Chihhong Lou Shumin Ren Zhihui Jiao Cong Wang Xiangdong Kong Qinghua Wu A novel mutation of KCNJ1 identified in an affected child with nephrolithiasis BMC Nephrology Nephrolithiasis Next generation sequencing KCNJ1 Bartter syndrome |
| title | A novel mutation of KCNJ1 identified in an affected child with nephrolithiasis |
| title_full | A novel mutation of KCNJ1 identified in an affected child with nephrolithiasis |
| title_fullStr | A novel mutation of KCNJ1 identified in an affected child with nephrolithiasis |
| title_full_unstemmed | A novel mutation of KCNJ1 identified in an affected child with nephrolithiasis |
| title_short | A novel mutation of KCNJ1 identified in an affected child with nephrolithiasis |
| title_sort | novel mutation of kcnj1 identified in an affected child with nephrolithiasis |
| topic | Nephrolithiasis Next generation sequencing KCNJ1 Bartter syndrome |
| url | https://doi.org/10.1186/s12882-022-02783-x |
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