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Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab

Robert Gruber1, Clare Rogerson2, Christian Windpassinger3

  • 1Department of Dermatology, Medical University of Innsbruck, Innsbruck, Austria; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.

The Journal of Investigative Dermatology
|December 27, 2016
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Summary

Genetic mutations in VPS33B cause a rare autosomal recessive syndrome characterized by severe palmoplantar keratoderma, ichthyosis, and sensorineural deafness. The p.Gly131Glu variant impairs collagen modification and epidermal barrier formation.

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Area of Science:

  • Genetics
  • Dermatology
  • Otolaryngology

Background:

  • Palmoplantar keratoderma, ichthyosis, and sensorineural deafness are rare conditions.
  • VPS33B gene mutations are implicated in various cellular processes, including protein trafficking.

Purpose of the Study:

  • To investigate the genetic basis of a severe keratoderma-ichthyosis-deafness syndrome.
  • To elucidate the functional consequences of VPS33B mutations on protein trafficking and epidermal structure.

Main Methods:

  • Genetic sequencing to identify mutations in VPS33B.
  • Cell-based assays to assess VPS33B protein interactions and trafficking of LH3.
  • Analysis of collagen modifications in patient samples.
  • Histological examination of skin biopsies from patients and a murine model.

Main Results:

  • Identified biallelic mutations in VPS33B in three patients with the syndrome.
  • The p.Gly131Glu mutation impaired VPS33B interaction with Rab11a/Rab25 and LH3 trafficking.
  • Deficient LH3-specific collagen modifications were observed in patients.
  • Patients and a VPS33B-deficient murine model showed impaired epidermal structure due to aberrant lamellar body secretion.

Conclusions:

  • The p.Gly131Glu mutation in VPS33B is pathogenic and causes autosomal recessive keratoderma-ichthyosis-deafness syndrome.
  • VPS33B dysfunction disrupts collagen modification and epidermal barrier formation.
  • Aberrant lamellar body secretion contributes to the observed skin and hearing defects.