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The Role of p.Ser1105Ser (in NPHS1 Gene) and p.Arg548Leu (in PLCE1 Gene) with Disease Status of Vietnamese Patients with Congenital Nephrotic Syndrome: Benign or Pathogenic?

1
Institute of Genome Research, Vietnam Academy of Science and Technology, 18, Hoang Quoc Viet str., Caugiay, Hanoi 100000, Vietnam
2
University of Science, Vietnam National University, 334, Nguyen Trai str., Thanhxuan, Hanoi 100000, Vietnam
3
Bachmai Hospital, Ministry of Health, Hanoi 100000, Vietnam
4
Vietnam National Children’s Hospital, Ministry of Health, 18/879 La Thanh str., Dongda, Hanoi 100000, Vietnam
5
Hanoi Open University, Ministry of Education and Training, Hanoi 100000, Vietnam
6
Faculty of Biotechnology, Graduate University of Science and Technology, Hanoi 100000, Vietnam
7
L’Hôpital Français de Hanoi, Ministry of Health, 1, Phuong Mai str., Dongda, Hanoi 100000, Vietnam
*
Author to whom correspondence should be addressed.
Medicina 2019, 55(4), 102; https://doi.org/10.3390/medicina55040102
Received: 11 January 2019 / Revised: 11 April 2019 / Accepted: 11 April 2019 / Published: 12 April 2019
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Abstract

Background and Objectives: Congenital nephrotic syndrome (CNS), a genetic disease caused by mutations in genes on autosomes, usually occurs in the first three months after birth. A number of genetic mutations in genes, which encode for the components of the glomerular filtration barrier have been identified. We investigated mutations in NPHS1, NPHS2, PLCE1 (NPHS3), and WT1 genes that relate to the disease in Vietnamese patients. Materials and Methods: We performed genetic analysis of two unrelated patients, who were diagnosed with CNS in the Vietnam National Children’s Hospital with different disease status. The entire coding region and adjacent splice sites of these genes were amplified and sequenced using the Sanger method. The sequencing data were analyzed and compared with the NPHS1, NPHS2, PLCE1, and WT1 gene sequences published in Ensembl (ENSG00000161270, ENSG00000116218, ENSG00000138193, and ENSG00000184937, respectively) using BioEdit software to detect mutations. Results: We detected a new variant p.Ser607Arg and two other (p.Glu117Lys and p.Ser1105Ser) in the NPHS1 gene, as well as two variants (p.Arg548Leu, p.Pro1575Arg) in the PLCE1 gene. No mutations were detected in the NPHS2 and WT1 genes. Patient 1, who presented a heterozygous genotype of p.Ser1105Ser and p.Arg548Leu had a mild disease status but patient 2, who presented a homozygous genotype of these alleles, had a severe phenotype. Conclusions: These results suggest that variants p.Ser1105Ser (in NPHS1 gene) and p.Arg548Leu (in PLCE1 gene) in the homozygous form might play a role in the development of the disease in patients. View Full-Text
Keywords: congential nephrotic syndrome (CNS); NPHS1; NPHS2; PLCE1; WT1 mutation; Vietnamese patients congential nephrotic syndrome (CNS); NPHS1; NPHS2; PLCE1; WT1 mutation; Vietnamese patients
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Thi Kim Lien, N.; Van Dem, P.; Thu Huong, N.; Minh Dien, T.; Thi Thu Thuy, T.; Van Tung, N.; Huy Hoang, N.; Thi Quynh Huong, N. The Role of p.Ser1105Ser (in NPHS1 Gene) and p.Arg548Leu (in PLCE1 Gene) with Disease Status of Vietnamese Patients with Congenital Nephrotic Syndrome: Benign or Pathogenic? Medicina 2019, 55, 102.

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