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Novel SLC39A4 mutation in acrodermatitis enteropathica.

Alexandra Coromilas1, Heather A Brandling-Bennett2, Kimberly D Morel1,2

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A rare genetic disorder causing skin issues and developmental delays, Acrodermatitis Enteropathica (AE), is linked to a specific gene mutation. Identifying this mutation in children from Sierra Leone is crucial for early diagnosis and treatment.

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Area of Science:

  • Genetics
  • Pediatrics
  • Dermatology

Background:

  • Acrodermatitis enteropathica (AE) is a rare autosomal-recessive disorder.
  • It is characterized by dermatitis, alopecia, diarrhea, and growth retardation.
  • AE is genetically linked to mutations in the SLC39A4 gene, which encodes the intestinal zinc transporter ZIP4.

Observation:

  • A novel homozygous mutation, 1191insC, in SLC39A4 was identified in a patient from Sierra Leone.
  • This finding suggests a potential founder mutation within this population.

Findings:

  • The study identified a novel homozygous mutation (1191insC) in the SLC39A4 gene.
  • This mutation is associated with Acrodermatitis Enteropathica in a patient from Sierra Leone.

Implications:

  • AE should be considered in the differential diagnosis for children presenting with acrodermatitis in Sierra Leone.
  • Genetic testing for this founder mutation offers a straightforward diagnostic approach.
  • Early diagnosis and genetic testing facilitate timely and effective treatment for this disorder.