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Pathogenic Variants in GPC4 Cause Keipert Syndrome.

David J Amor1, Sarah E M Stephenson1, Mirna Mustapha2

  • 1Murdoch Children's Research Institute, Flemington Road, Parkville, Victoria 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia.

American Journal of Human Genetics
|April 16, 2019
PubMed
Summary
This summary is machine-generated.

Pathogenic variants in the glypican 4 (GPC4) gene cause Keipert syndrome, a condition characterized by craniofacial and digital abnormalities. This study links GPC4 loss-of-function to a genetic syndrome, expanding the known roles of glypicans.

Keywords:
GPC4Keipert syndromeNasodigitoacoustic syndromeglypicans

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Area of Science:

  • Genetics
  • Developmental Biology
  • Molecular Biology

Background:

  • Glypicans are cell-surface proteoglycans crucial for growth factor signaling and morphogenesis.
  • Keipert syndrome (nasodigitoacoustic syndrome) is a rare genetic disorder with distinct craniofacial and digital features.

Purpose of the Study:

  • To identify the genetic cause of Keipert syndrome.
  • To investigate the functional consequences of identified genetic variants in GPC4.
  • To establish GPC4 as a causative gene for Keipert syndrome.

Main Methods:

  • Whole-exome sequencing to identify genetic variants in affected families.
  • Segregation analysis and X-inactivation studies in carrier females.
  • Functional studies of recombinant GPC4 proteins and Gpc4 knockout mouse models.

Main Results:

  • Identified hemizygous truncating variants in GPC4 in multiple families with Keipert syndrome.
  • Demonstrated that GPC4 variants lead to loss of N-linked glycosylation and GPI anchor sites, reducing protein stability.
  • Gpc4 knockout mice exhibited craniofacial and digital abnormalities mirroring Keipert syndrome features.

Conclusions:

  • Pathogenic variants in GPC4 cause loss of function, leading to Keipert syndrome.
  • GPC4 is the third glypican gene linked to a human genetic syndrome.
  • This finding expands our understanding of glypican function in human development and disease.