Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome.
- Author:
Hee Gyung KANG
1
;
Moses LEE
;
Kyoung Boon LEE
;
Michael HUGHES
;
Bo Sang KWON
;
Sangmoon LEE
;
Kelly M MCNAGNY
;
Yo Han AHN
;
Jung Min KO
;
Il Soo HA
;
Murim CHOI
;
Hae Il CHEONG
Author Information
- Publication Type:Original Article
- From:Experimental & Molecular Medicine 2017;49(12):e414-
- CountryRepublic of Korea
- Language:English
- 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.
