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Pathogenic PHIP Variants are Variably Associated With CAKUT

Jonathan de Fallois1, Tobias Sieckmann2, Ria Schönauer3

  • 1Division of Nephrology, Department of Internal Medicine, University of Leipzig Medical Center, Leipzig, Germany.

Kidney International Reports
|August 19, 2024
PubMed

Insights

Genetic variants in the PHIP gene are linked to Chung-Jansen syndrome (CHUJANS) and may cause congenital anomalies of the kidney and urinary tract (CAKUT). Clinical evaluation for kidney issues is recommended for CHUJANS patients.

Area of Science:

  • Genetics
  • Pediatrics
  • Nephrology

Background:

  • Congenital anomalies of the kidney and urinary tract (CAKUT) are a leading cause of pediatric chronic kidney disease.
  • Most CAKUT cases lack a genetic explanation.
  • Chung-Jansen syndrome (CHUJANS), caused by PHIP gene haploinsufficiency, has been linked to genital malformations.

Purpose of the Study:

  • To investigate if urorenal malformations are part of the CHUJANS phenotypic spectrum.
  • To explore the role of PHIP in kidney development.

Main Methods:

  • Analysis of existing CHUJANS and CAKUT patient cohorts.
  • Systematic literature review and matchmaking platform consultation.
  • Prenatal expression studies of PHIP in murine and human renal tissues.

Main Results:

  • Identified 12 patients (4 novel, 8 published) with both CHUJANS and CAKUT.
  • Observed a urorenogenital trait frequency of 5% to 35% in CHUJANS, indicating variable expressivity.
  • Prenatal expression studies supported PHIP's role in normal kidney and urinary tract development.

Conclusions:

  • Pathogenic PHIP variants should be considered in syndromic CAKUT.
  • CHUJANS patients require clinical evaluation for urorenital manifestations.
  • Interdisciplinary re-evaluation may uncover novel nephrogenesis mechanisms and kidney associations in neurodevelopmental disorders.
Abstract

Keywords:
CAKUTChung-Jansen syndrome (CHUJANS)PHIP

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