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CTNND1-Related Disorder: New Insight on Prenatal Phenotype.

B Conti1, C Di Napoli2, S Hafdaoui1

  • 1Biomedical and Clinical Science Department, University of Milan, Milan, Italy.

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|November 1, 2024
PubMed
Summary
This summary is machine-generated.

This study details a prenatal case of Blepharo-cheilo-dontic syndrome caused by a CTNND1 gene variant. The findings expand the known phenotype to include hydrocephalus, highlighting CTNND1's broader developmental role.

Keywords:
CTNND1BCDSBlefaro‐cheilo‐dontic syndromeprenatal phenotypereverse phenotypingwhole exome sequencing (WES)

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Area of Science:

  • Genetics and Developmental Biology
  • Molecular and Cellular Biology

Background:

  • The CTNND1 gene encodes p120 catenin, crucial for cell adhesion and signaling pathways.
  • Pathogenic CTNND1 variants are typically linked to isolated cleft palate and Blepharo-cheilo-dontic syndrome (BCDS).

Observation:

  • A prenatal case presented with a CTNND1 pathogenic variant.
  • Reverse phenotyping was employed for diagnosis.
  • The case exhibited BCDS features alongside hydrocephalus, a previously unreported association.

Findings:

  • This is the first detailed fetal case report of BCDS.
  • The identified CTNND1 variant was associated with hydrocephalus, expanding the syndrome's known phenotypic spectrum.
  • The findings support a wider developmental role for CTNND1.

Implications:

  • This case broadens the understanding of CTNND1-related disorders.
  • It suggests CTNND1 plays a role in a wider range of developmental processes than previously recognized.
  • Further research is warranted to fully define the phenotypic spectrum associated with CTNND1 variants.