Can I read Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children on EtoBox?

Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children by Vivante, Asaf; Chacham, Orna Staretz; Shril, Shirlee; Schreiber, Ruth; Mane, Shrikant M.; Pode-Shakked, Ben; Soliman, Neveen A.; Koneth, Irene; Schiffer, Mario; Anikster, Yair; Hildebrandt, Friedhelm is a Medicine article available to read on EtoBox.

What is Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children about?

## Background: Heterozygous pax2 mutations cause renal coloboma syndrome (rcs) [omim no. 120330]. rcs is a renal syndromic disease encompassing retinal coloboma and sensorineural hearing loss. recently, a causative role for pax2 was reported in adult-onset nephrotic syndrome secondary to focal segmental glomerulosclerosis (fsgs). however, the prevalence of pax2 mutations among large cohort of children with steroid-resistant nephrotic syndrome (srns) and fsgs has not been systematically studied. ## Methods: We employed whole-exome sequencing (wes) to identify the percentage of srns cases explained by monogenic mutations in known genes of srns/fsgs. as pax2 mutations are not an established cause of childhood fsgs, we evaluated a cohort of 215 unrelated families with srns, in whom no underlying genetic etiology had been previously established. ## Results: Using wes, we identified 3 novel causative heterozygous pax2 mutations in 3 out of the 215 unrelated index cases studied (1.3%). all three cases were detected in individuals from families with more than one affected and compatible with an autosomal dominant mode of inheritance (3/57 familial cases studied (5.2%)). the clinical diagno

Who reads Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children?

Author

Vivante, Asaf; Chacham, Orna Staretz; Shril, Shirlee; Schreiber, Ruth; Mane, Shrikant M.; Pode-Shakked, Ben; Soliman, Neveen A.; Koneth, Irene; Schiffer, Mario; Anikster, Yair; Hildebrandt, Friedhelm

Publisher

Springer; Springer-Verlag; Springer Verlag; Springer Science and Business Media LLC (ISSN 0931-041X)

Published

2019

Language

EN

Field

Medicine (Health Sciences)