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Peters Plus syndrome: a recognizable clinical entity.

Gizem Ürel Demir1, Naz Güleray Lafcı2, Özlem Akgün Doğan1

  • 1Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

The Turkish Journal of Pediatrics
|April 8, 2020
PubMed
Summary

Peters plus syndrome is a rare genetic disorder. We identified a homozygous mutation in the B3GLCT gene in a patient, confirming its role in this condition.

Keywords:
B3GLCTPeters anomalyPeters plus syndrome

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Area of Science:

  • Genetics
  • Ophthalmology
  • Developmental Biology

Background:

  • Peters plus syndrome is a rare genetic disorder characterized by anterior segment dysgenesis (Peters anomaly) and distinctive facial features.
  • Previous research identified homozygous variants in the B3GLCT gene as the underlying cause of Peters plus syndrome.

Observation:

  • A one-month-old female infant presented with clinical features typical of Peters plus syndrome.
  • The patient exhibited hallmark signs including Peters anomaly and other systemic involvements.

Findings:

  • Genetic analysis revealed a homozygous pathogenic mutation in the B3GLCT gene in the affected infant.
  • This finding confirms the etiological link between B3GLCT gene mutations and Peters plus syndrome.

Implications:

  • This case reinforces the importance of B3GLCT gene sequencing for diagnosing Peters plus syndrome.
  • Understanding the genetic basis of Peters plus syndrome aids in genetic counseling and potential therapeutic strategies.