Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome
Congenital nephrotic syndrome, a rare and severe disease, is inherited as an autosomal recessive trait. The disease manifests shortly after birth and occurs predominantly in families of Finnish origin but has now been observed in all countries and races. Mutations in the NPHS1 gene, which encodes ne...
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| Format: | Article |
| Language: | English |
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Wiley
2017-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2017/2357282 |
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| author | Thi Kim Lien Nguyen Van Dem Pham Thu Huong Nguyen Trung Kien Pham Thi Quynh Huong Nguyen Huy Hoang Nguyen |
| author_facet | Thi Kim Lien Nguyen Van Dem Pham Thu Huong Nguyen Trung Kien Pham Thi Quynh Huong Nguyen Huy Hoang Nguyen |
| author_sort | Thi Kim Lien Nguyen |
| collection | DOAJ |
| description | Congenital nephrotic syndrome, a rare and severe disease, is inherited as an autosomal recessive trait. The disease manifests shortly after birth and occurs predominantly in families of Finnish origin but has now been observed in all countries and races. Mutations in the NPHS1 gene, which encodes nephrin, are the main causes of congenital nephrotic syndrome in patients. In this study, we report the first mutational analysis of the NPHS1 gene in three unrelated children from three different Vietnamese families. These patients were examined and determined to be suffering from congenital nephrotic syndrome in the Department of Pediatrics, Vietnam National Hospital of Pediatrics. All 29 exons and exon-intron boundaries of NPHS1 were analyzed by PCR and DNA sequencing. Genetic analysis of the NPHS1 gene revealed one compound heterozygous variant p.Glu117Lys, one heterozygous missense mutation p.Asp310Asn, and one heterozygous frame-shifting mutation (c.3250_3251insG causing p.Val1084Glyfs⁎12) in patient 1. In patient 2, one heterozygous variant p.Glu117Lys and one novel heterozygous missense mutation p.Ser324Ala were identified. Finally, a novel missense mutation p.Arg802Leu and a novel nonsense mutation (c.2442C>G causing p.K792⁎) were identified in patient 3. |
| format | Article |
| id | doaj-art-bbce6d31b03c4d9593c970b7590fbaee |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-bbce6d31b03c4d9593c970b7590fbaee2025-02-03T06:01:43ZengWileyCase Reports in Genetics2090-65442090-65522017-01-01201710.1155/2017/23572822357282Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic SyndromeThi Kim Lien Nguyen0Van Dem Pham1Thu Huong Nguyen2Trung Kien Pham3Thi Quynh Huong Nguyen4Huy Hoang Nguyen5Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi, VietnamFaculty of Medicine and Pharmacy, Vietnam National University, Hanoi, VietnamVietnam National Hospital of Pediatrics, Hanoi, VietnamFaculty of Medicine and Pharmacy, Vietnam National University, Hanoi, VietnamHanoi Medical University, Hanoi, VietnamInstitute of Genome Research, Vietnam Academy of Science and Technology, Hanoi, VietnamCongenital nephrotic syndrome, a rare and severe disease, is inherited as an autosomal recessive trait. The disease manifests shortly after birth and occurs predominantly in families of Finnish origin but has now been observed in all countries and races. Mutations in the NPHS1 gene, which encodes nephrin, are the main causes of congenital nephrotic syndrome in patients. In this study, we report the first mutational analysis of the NPHS1 gene in three unrelated children from three different Vietnamese families. These patients were examined and determined to be suffering from congenital nephrotic syndrome in the Department of Pediatrics, Vietnam National Hospital of Pediatrics. All 29 exons and exon-intron boundaries of NPHS1 were analyzed by PCR and DNA sequencing. Genetic analysis of the NPHS1 gene revealed one compound heterozygous variant p.Glu117Lys, one heterozygous missense mutation p.Asp310Asn, and one heterozygous frame-shifting mutation (c.3250_3251insG causing p.Val1084Glyfs⁎12) in patient 1. In patient 2, one heterozygous variant p.Glu117Lys and one novel heterozygous missense mutation p.Ser324Ala were identified. Finally, a novel missense mutation p.Arg802Leu and a novel nonsense mutation (c.2442C>G causing p.K792⁎) were identified in patient 3.http://dx.doi.org/10.1155/2017/2357282 |
| spellingShingle | Thi Kim Lien Nguyen Van Dem Pham Thu Huong Nguyen Trung Kien Pham Thi Quynh Huong Nguyen Huy Hoang Nguyen Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome Case Reports in Genetics |
| title | Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome |
| title_full | Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome |
| title_fullStr | Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome |
| title_full_unstemmed | Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome |
| title_short | Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome |
| title_sort | three novel mutations in the nphs1 gene in vietnamese patients with congenital nephrotic syndrome |
| url | http://dx.doi.org/10.1155/2017/2357282 |
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