Indexed by: Unit Twenty Basic Research

Document Code: PMID: 24814193

First Author: Heon Yung Gee

Correspondence Author: Friedhelm Hildebrandt

Co-author: Shazia Ashraf, Xiaoyang Wan, Virginia Vega-Warner, Julian Esteve-Rudd, Svjetlana Lovric, Humphrey Fang, Toby W. Hurd, Carolin E. Sadowski, Susan J. Allen, Edgar A. Otto, Emine Korkmaz, Joseph Washburn, Shawn Levy, David S. Williams, Sevcan A. Bakkaloglu, Anna Zolotnitskaya, Fatih Ozaltin, Weibin Zhou, Friedhelm Hildebrandt

Journal: American Journal of Human Genetics

Included Journals: SCI

Affiliation of Author(s): the University of Michigan

Place of Publication: USA

Volume: 94

Issue: (6)

Page Number: 884-90

ISSN No.: 0002-9297

Date of Publication: 2014-06-05

Abstract: Nephrotic syndrome (NS) is a genetically heterogeneous group of diseases that are divided into steroid-sensitive NS (SSNS) and steroid-resistant NS (SRNS). SRNS inevitably leads to end-stage kidney disease, and no curative treatment is available. To date, mutations in more than 24 genes have been described in Mendelian forms of SRNS; however, no Mendelian form of SSNS has been described. To identify a genetic form of SSNS, we performed homozygosity mapping, whole-exome sequencing, and multiplex PCR followed by next-generation sequencing. We thereby detected biallelic mutations in EMP2 (epithel

Links to published journals: https://www.ncbi.nlm.nih.gov/pubmed/24814193