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

Hee Gyung Kang, 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

Research output: Contribution to journalArticle

7 Citations (Scopus)

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.

Original languageEnglish
Article numbere414
JournalExperimental and Molecular Medicine
Volume49
Issue number12
DOIs
StatePublished - 1 Jan 2017

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Nephrotic Syndrome
Kidney
Umbilical Hernia
Podocytes
Medical Genetics
Cellular Structures
Genomics
Diaphragm
Membrane Proteins
Embryonic Structures
Mutation
Diaphragms
podocalyxin
nephrin
Pierson syndrome
NPHS2 protein

Cite this

Kang, Hee Gyung ; Lee, Moses ; Lee, Kyoung Boon ; Hughes, Michael ; Kwon, Bo Sang ; Lee, Sangmoon ; McNagny, Kelly M. ; Ahn, Yo Han ; Ko, Jung Min ; Ha, Il Soo ; Choi, Murim ; Cheong, Hae Il. / Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome. In: Experimental and Molecular Medicine. 2017 ; Vol. 49, No. 12.
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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.",
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Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome. / Kang, Hee Gyung; Lee, Moses; Lee, Kyoung Boon; Hughes, Michael; Kwon, Bo Sang; Lee, Sangmoon; McNagny, Kelly M.; Ahn, Yo Han; Ko, Jung Min; Ha, Il Soo; Choi, Murim; Cheong, Hae Il.

In: Experimental and Molecular Medicine, Vol. 49, No. 12, e414, 01.01.2017.

Research output: Contribution to journalArticle

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AU - Lee, Moses

AU - Lee, Kyoung Boon

AU - Hughes, Michael

AU - Kwon, Bo Sang

AU - Lee, Sangmoon

AU - McNagny, Kelly M.

AU - Ahn, Yo Han

AU - Ko, Jung Min

AU - Ha, Il Soo

AU - Choi, Murim

AU - Cheong, Hae Il

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