NPHS2 Mutations in Indian Children with Sporadic Early Steroid Resistant Nephrotic Syndrome.
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Date
2012-03
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Abstract
We examined the frequency and spectrum of podocin NPHS2 mutations in Indian children
with sporadic steroid resistant nephrotic syndrome (SRNS). Of 25 children screened, only
one (4%) had a pathogenic mutation resulting in a stop codon. The allele and genotype
frequencies of the four known single nucleotide polymorphisms detected in the cohort were
similar to that of controls. This finding emphasizes the need to screen for mutations in other
genes involved in the pathogenesis of SRNS.
Description
Keywords
India, Nephrotic syndrome, Podocin, Steroid resistance
Citation
Vasudevan Anil, Siji Annes, Raghavendra Ashwini, Sridhar T S, Phadke Kishore D. NPHS2 Mutations in Indian Children with Sporadic Early Steroid Resistant Nephrotic Syndrome. Indian Pediatrics. 2012 March; 49(3): 231-233.