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FOXI2: a possible gene contributing to ectodermal dysplasia.

Mazen Kurban1, Savo Bou Zeineddine2, Lamiaa Hamie3

  • 1Department of Dermatology, American University of Beirut, Beirut, Lebanon, Department of Biochemistry and Molecular Genetics; American University of Beirut, Beirut, Lebanon, Department of Dermatology, Columbia University, New York, USA.

European Journal of Dermatology : EJD
|November 23, 2017
PubMed
Summary
This summary is machine-generated.

This study identifies a novel FOXI2 gene deletion in a patient with overlapping RASopathies and ectodermal dysplasia. This finding suggests FOXI2 as a potential diagnostic target for similar complex genetic disorders.

Keywords:
FOXI2Noonan syndromeRASSOS1cardio-facio-cutaneous syndrome

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Area of Science:

  • Genetics and Molecular Biology
  • Developmental Biology
  • Dermatology

Background:

  • Cardio-facio-cutaneous (CFC) syndrome, Noonan syndrome (NS), and Costello syndrome are clinically similar RASopathies, posing diagnostic challenges.
  • Ectodermal dysplasia features were observed in a patient with overlapping RASopathy symptoms.

Purpose of the Study:

  • To investigate the genotype and phenotype of a 10-year-old Iraqi girl with overlapping CFC, NS, and Costello syndrome features, plus ectodermal dysplasia.
  • To identify genetic mutations contributing to the complex clinical presentation.

Main Methods:

  • Whole exome sequencing was performed on the patient's DNA.
  • Immunohistochemistry was used to analyze protein expression in skin tissue.
  • Genetic analysis included comparison with international databases and population controls.

Main Results:

  • A mutation in the SOS1 gene and a de novo deletion in the FOXI2 gene were identified.
  • The FOXI2 deletion was novel, absent in databases and population samples.
  • FOXI2 expression in skin basal cells overlapped with P63, a known ectodermal dysplasia marker.

Conclusions:

  • The novel FOXI2 deletion is implicated in the patient's overlapping RASopathy and ectodermal dysplasia phenotype.
  • Suggests screening for FOXI2 mutations in cases of ectodermal features not linked to known genes.
  • Highlights the role of FOXI2 in ectodermal development and its potential involvement in RASopathies.