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Exp Mol Med. 2017 Dec 15;49(12):e414. doi: 10.1038/emm.2017.227.

Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome.

Author information

1
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.
2
Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, Republic of Korea.
3
Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.
4
Department of Pathology, Seoul National University College of Medicine, Seoul, Republic of Korea.
5
The Biomedical Research Centre, The University of British Colombia, Vancouver, British Columbia, Canada.
6
Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Republic of Korea.

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.

PMID:
29244787
PMCID:
PMC5750479
DOI:
10.1038/emm.2017.227
[Indexed for MEDLINE]
Free PMC Article

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