Mutations in EMP2 cause childhood-onset nephrotic syndrome
论文类型：基础研究
论文编号：PMID: 24814193
第一作者：Heon Yung Gee
通讯作者：Friedhelm Hildebrandt
合写作者： 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
发表刊物：American Journal of Human Genetics
收录刊物：SCI
所属单位：the University of Michigan
刊物所在地：USA
卷号：94
期号：(6)
页面范围：884-90
ISSN号：0002-9297
发表时间：2014-06-05
摘要：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