Bioinformatics evaluation of NPHS2 deletion mutation associated with congenital nephrotic syndrome in a consanguineous Pakistani family.

To the Editor, Congenital nephrotic syndrome (CNS) is an autosomal recessive, the most frequent and clinically heterogeneous renal disease. The disease is defined by childhood onset of heavy proteinuria, hypoalbuminemia, hyperlipidemia, edema, and minimal glomerular changes. Mutations of NPHS2 gene, encoding glomerular protein podocin are a major cause of autosomal-recessive steroid resistant nephrotic syndrome with age of onset of the disease from early in infancy to adulthood (1). To date over 100 NPHS2 gene mutations are reported, mostly in non-Asian countries (2). It is therefore important to conduct more studies in Asian population to know the genetic etiology and clinical characteristics of the disease in Asian patients and families. In this study, a three generation consanguineous Pakistani family, in which CNS was segregating as an autosomal recessive trait was ascertained through a local nephrology clinic. Clinical examination of the affected individuals was performed by a specialist nephrologist and the observations are summarized in Table 1. We mapped the disease phenotype to NPHS2 gene locus and on direct DNA sequencing, a homozygous