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Novel Genetic Variants and Clinical Profiles in Peters Anomaly Spectrum Disorders.

Flora Delas1,2, Samuel Koller1, Jordi Maggi1

  • 1Institute of Medical Molecular Genetics, University of Zurich, 8952 Schlieren, Switzerland.

International Journal of Molecular Sciences
|July 12, 2025
PubMed
Summary

This study identifies novel genetic variants, including a large deletion and a FOXC1 mutation, in individuals with Peters anomaly spectrum disorder. These findings highlight the genetic complexity and phenotypic variability of anterior segment dysgenesis.

Keywords:
FOXC1PEX2Peters anomalyPeters plus syndromePeters plus-like syndromeZFHX4anterior segment dysgenesiscongenital glaucomacorneal opacity

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Area of Science:

  • Ophthalmology
  • Genetics
  • Developmental Biology

Background:

  • Peters anomaly (PA) is a rare congenital disorder within the anterior segment dysgenesis (ASD) spectrum.
  • PA is characterized by corneal opacity, iridocorneal adhesions, and potential systemic involvement.
  • The genetic basis of PA and related syndromes is complex and not fully understood.

Purpose of the Study:

  • To investigate novel genetic variants and their clinical impact in two unrelated individuals with PA spectrum disorder.
  • To expand the genetic landscape of PA and improve subclassifying ASD disorders.

Main Methods:

  • Whole-exome sequencing (WES)
  • Long-range PCR and breakpoint analysis
  • Sanger sequencing for variant confirmation

Main Results:

  • A heterozygous ~1.6 Mb deletion spanning PEX2 and ZFHX4 was identified in the first patient.
  • A likely pathogenic heterozygous FOXC1 variant was identified in the second patient.
  • Both variants were de novo and associated with phenotypic variability, ranging from isolated ocular to systemic involvement.

Conclusions:

  • These findings expand the genetic understanding of PA spectrum disorders.
  • Comprehensive genomic analysis is crucial for subclassifying ASD.
  • Further research is needed to understand variant functional consequences and improve diagnostics and therapeutics.