scholarly journals First Report of Preimplantation Genetic Diagnosis for Steroid-Resistant Nephrotic Syndrome

2020 ◽  
Vol 3 (1) ◽  
Author(s):  
Faravareh Khordadpoor Deilamani ◽  
Mohammad Taghi Akbari
Keyword(s):  
Nephrotic Syndrome ◽  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis ◽  
Autosomal Recessive Inheritance ◽  
Cycle Sequencing ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Str Markers ◽  
The Status ◽  
Nphs2 Gene

Background: Steroid-resistant nephrotic syndrome is a genetic disease with autosomal recessive inheritance pattern and symptoms such as proteinuria and hypoalbuminemia and rapid progress of kidney disease. Preimplantation genetic diagnosis is an option for couples who are at risk of affected pregnancy to have a healthy child. Objectives: This study aimed to develop a new PGD test for a couple who are heterozygous for a mutation in NPHS2 gene and have a son affected to steroid-resistant nephrotic syndrome. Methods: Variant detection by cycle sequencing and Multiplex fluorescent PCR for identification of flanking STR markers were used to investigate the status of the embryos. Results: Three out of six embryos were transferable from which one was transferred and resulted in the birth of a healthy boy. Conclusions: We recommend increasing the number of the STR markers to two at the downstream of the NPHS2 gene especially in cases that direct mutation analysis such as cycle sequencing is not applied.

scholarly journals NPHS2 gene mutation, atopy, and gender as risk factors for steroid-resistant nephrotic syndrome in Indonesians

2011 ◽  
Vol 51 (5) ◽  
pp. 272 ◽  
Author(s):  
Dedi Rachmadi ◽  
Danny Hilmanto ◽  
Ponpon Ijradinata ◽  
Abdurahman Sukadi
Keyword(s):  
Risk Factors ◽  
Nephrotic Syndrome ◽  
Gene Mutation ◽  
Significant Risk ◽  
Gene Mutations ◽  
Male Gender ◽  
Amplification Refractory Mutation System ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Nphs2 Gene

Background Steroid-resistant nephrotic syndrome (SRNS) often develops into end stage renal disease. Previous studies have reported that NPHS2 gene mutation, gender, and atopic history are risk factors associated with SRNS. Interethnic, sociocultural, and environmental differences have also been suggested to affect these mutations.Objective To analyze possible risk factors for SRNS, including NPHS2 gene mutations (412C→T and 419delG), gender and atopic history, in Indonesian subjects with SRNS.Methods A case-control study with 153 subjects, consisting of 88 SRNS patients and 65 control subjects, was undertaken in 10 Indonesian teaching centre hospitals from September 2006 to December 2007. Analysis of the NPHS2 gene mutation in 412 C→T was performed by amplification refractory mutation system-polymerase chain reaction (ARMS-PCR), while that for the NPHS2 gene mutation in 419delG was performed by restriction fragment length polymorphism (RFLP). Data was analyzed by multiple logistic regression.Results In our Indonesian subjects, the significant risk factors for SRNS were male gender (OR=2.21; CI 95%:1.07-4.56, P=0.036), NPHS2 412C→T gene mutation (OR=18.07; CI 95%:6.76-48.31, P<0.001), and NPHS2 419delG gene mutation (OR=4.55; CI 95%:1.66-12.47, P=0.003). However, atopic history was not a significant risk factor for SRNS (OR=1.807; CI 95%:0.642-5.086, P=0.262).Conclusion NPHS2 412C→T and 419delG gene mutations, as well as male gender are risk factors for SRNS in Indonesian subjects. Atopic history was not significantly associated with SRNS in our subjects. [Paediatr Indones. 2011;51:272-6].

TRPC6 and NPHS2 gene variants in adult patients with steroid-resistant nephrotic syndrome in North-West of Iran

2019 ◽  
Vol 46 (6) ◽  
pp. 6339-6344
Author(s):  
Sepideh Zununi Vahed ◽  
Hakimeh Moghaddas Sani ◽  
Mehdi Haghi ◽  
Mohammadali Mohajel Shoja ◽  
Mohammadreza Ardalan
Keyword(s):  
Nephrotic Syndrome ◽  
Adult Patients ◽  
Gene Variants ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
North West ◽  
Nphs2 Gene

scholarly journals Analysis of NPHS2 Gene Mutations in Egyptian Children with Nephrotic Syndrome

2019 ◽  
Vol 7 (19) ◽  
pp. 3145-3148
Author(s):  
Moushira Zaki ◽  
Shreen El-Shaer ◽  
Sahar Rady ◽  
Manal Abd El-Salam ◽  
Ragaa Abd-El-Salam ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Mutational Analysis ◽  
Polymerase Chain Reaction Amplification ◽  
Disease Onset ◽  
Control Group ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Increased Risk ◽  
Egyptian Children ◽  
Nphs2 Gene

BACKGROUND: Mutations in the NPHS2 genes are the main aetiology of early-onset and familial steroid-resistant nephrotic syndrome (SRNS). The pathogenic NPHS2 mutation together with the p.R229Q variant has been less described among Egyptian children. AIM: This study aims to determine the mutation of NPHS2 in children with NS and discover the role of p.R229Q variant in SRNS METHODS: The study included 53 children with NS, and 53 healthy volunteers matched in age and sex controls. The median age at disease onset was 7.3 years. Among NS cases, 31 cases had steroid-sensitive nephrotic syndrome (SSNS) and 22 children with steroid-resistant nephrotic syndrome (SRNS). Polymerase chain reaction amplification of the whole coding region of NPHS2 gene was carried out for its mutational analysis. Restriction digestion testing was carried out after PCR to determine the presence of R229Q polymorphism. Randomly selected samples were re-genotyped by two independent technicians for assessment of Quality control RESULTS: NS patients showed a significant higher frequency of heterozygous genotype GA (89.5%) compared to control group (10.5%) with increased risk of NS (OR, 12.04; 95% CI, 2.61 to55.38; p < 0.0001). Moreover, SRNS showed a significant higher frequency of GA genotype (68.2%) than the SSNS group (6.5%). The GA genotype was associated with increased risk of SRNS (OR, 31.1; 95% CI, 5.73 to 168.48; P < 0.001) and the A allele was associated with increased risk of SRNS (OR, 15.52; 95% CI, 3.325 to 72.422; P < .001). CONCLUSION: R229Q polymorphisms are associated with SRNS, and any child with SRNS should be searched for mutations in the NPHS2 gene.

WT1 and NPHS2 gene mutation analysis and clinical management of steroid-resistant nephrotic syndrome

2016 ◽  
Vol 426 (1-2) ◽  
pp. 177-181 ◽  
Author(s):  
Aravind Selvin Kumar Ramanathan ◽  
Murali Vijayan ◽  
Srilakshmi Rajagopal ◽  
Padmaraj Rajendiran ◽  
Prabha Senguttuvan
Keyword(s):  
Nephrotic Syndrome ◽  
Gene Mutation ◽  
Mutation Analysis ◽  
Clinical Management ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Gene Mutation Analysis ◽  
Nphs2 Gene

SCREENING OF MUTATIONS IN THE NPHS2 GENE IN GREEK PATIENTS WITH AUTOSOMAL-RECESSIVE STEROID-RESISTANT NEPHROTIC SYNDROME

PEDIATRICS ◽  
2008 ◽  
Vol 121 (Supplement 2) ◽  
pp. S117.1-S117
Author(s):  
Spyridon Megremis ◽  
Artemis Mitsioni ◽  
Andromachi Mitsioni ◽  
Constantinos Stefanidis ◽  
Sofia Kitsiou-Tzelli ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Autosomal Recessive ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Nphs2 Gene

Case Report. A novel NPHS2 gene mutation in Turkish children with familial steroid-resistant nephrotic syndrome

Nephrology ◽  
2004 ◽  
Vol 9 (5) ◽  
pp. 310-312 ◽  
Author(s):  
ESRA ARUN OZER ◽  
NEJAT AKSU ◽  
HAKAN ERDOGAN ◽  
ONDER YAVASCAN ◽  
ORHAN KARA ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Case Report ◽  
Gene Mutation ◽  
Turkish Children ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Nphs2 Gene

scholarly journals Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome

2017 ◽  
Vol 13 (1) ◽  
pp. 53-62 ◽  
Author(s):  
Jillian K. Warejko ◽  
Weizhen Tan ◽  
Ankana Daga ◽  
David Schapiro ◽  
Jennifer A. Lawson ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Genetic Diagnosis ◽  
Congenital Nephrotic Syndrome ◽  
Causative Mutation ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Whole Exome ◽  
Panel Sequencing

Background and objectivesSteroid-resistant nephrotic syndrome overwhelmingly progresses to ESRD. More than 30 monogenic genes have been identified to cause steroid-resistant nephrotic syndrome. We previously detected causative mutations using targeted panel sequencing in 30% of patients with steroid-resistant nephrotic syndrome. Panel sequencing has a number of limitations when compared with whole exome sequencing. We employed whole exome sequencing to detect monogenic causes of steroid-resistant nephrotic syndrome in an international cohort of 300 families.Design, setting, participants, & measurementsThree hundred thirty-five individuals with steroid-resistant nephrotic syndrome from 300 families were recruited from April of 1998 to June of 2016. Age of onset was restricted to <25 years of age. Exome data were evaluated for 33 known monogenic steroid-resistant nephrotic syndrome genes.ResultsIn 74 of 300 families (25%), we identified a causative mutation in one of 20 genes known to cause steroid-resistant nephrotic syndrome. In 11 families (3.7%), we detected a mutation in a gene that causes a phenocopy of steroid-resistant nephrotic syndrome. This is consistent with our previously published identification of mutations using a panel approach. We detected a causative mutation in a known steroid-resistant nephrotic syndrome gene in 38% of consanguineous families and in 13% of nonconsanguineous families, and 48% of children with congenital nephrotic syndrome. A total of 68 different mutations were detected in 20 of 33 steroid-resistant nephrotic syndrome genes. Fifteen of these mutations were novel. NPHS1, PLCE1, NPHS2, and SMARCAL1 were the most common genes in which we detected a mutation. In another 28% of families, we detected mutations in one or more candidate genes for steroid-resistant nephrotic syndrome.ConclusionsWhole exome sequencing is a sensitive approach toward diagnosis of monogenic causes of steroid-resistant nephrotic syndrome. A molecular genetic diagnosis of steroid-resistant nephrotic syndrome may have important consequences for the management of treatment and kidney transplantation in steroid-resistant nephrotic syndrome.

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