Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome.
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ABSTRACT:
SUBMITTER: Kang HG
PROVIDER: S-EPMC5750479 | biostudies-literature | 2017 Dec
REPOSITORIES: biostudies-literature
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Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome.
Kang Hee Gyung HG Lee Moses M Lee Kyoung Boon KB Hughes Michael M Kwon Bo Sang BS Lee Sangmoon S McNagny Kelly M KM Ahn Yo Han YH Ko Jung Min JM Ha Il-Soo IS Choi Murim M Cheong Hae Il HI
Experimental & molecular medicine 20171215 12
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, inheri ...[more]
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