Exp Mol Med.
2017 Dec;49(12):e414. 10.1038/emm.2017.227.
Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome
- Affiliations
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- 1Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea. murimchoi@snu.ac.kr, cheonghi@snu.ac.kr
- 2Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, Republic of Korea.
- 3Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.
- 4Department of Pathology, Seoul National University College of Medicine, Seoul, Republic of Korea.
- 5The Biomedical Research Centre, The University of British Colombia, Vancouver, British Columbia, Canada.
- 6Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Republic of Korea.
- KMID: 2402951
- DOI: http://doi.org/10.1038/emm.2017.227
Abstract
- Many cellular structures directly imply specific biological functions. For example, normal slit diaphragm structures that extend from podocyte foot processes ensure the filtering function of renal glomeruli. These slits are covered by a number of surface proteins, such as nephrin, podocin, podocalyxin and CD2AP. Here we report a human patient presenting with congenital nephrotic syndrome, omphalocele and microcoria due to two loss-of-function mutations in PODXL, which encodes podocalyxin, inherited from each parent. This set of symptoms strikingly mimics previously reported mouse Podxl(−/−) embryos, emphasizing the essential function of PODXL in mammalian kidney development and highlighting this patient as a human PODXL-null model. The results underscore the utility of current genomics approaches to provide insights into the genetic mechanisms of human disease traits through molecular diagnosis.
