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Related Experiment Videos

A novel insertional mutation in loricrin in Vohwinkel's Keratoderma

D K Armstrong1, K E McKenna, A E Hughes

  • 1Division of Molecular Medicine, Queen's University Belfast, Northern Ireland, UK.

The Journal of Investigative Dermatology
|October 9, 1998
PubMed
Summary

A novel loricrin gene mutation was identified in Vohwinkel's Keratoderma patients, confirming insertional mutations cause this ichthyosis-associated skin condition.

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Area of Science:

  • Genetics
  • Dermatology
  • Molecular Biology

Background:

  • Vohwinkel's Keratoderma is a rare skin disorder.
  • Ichthyosiform dermatosis is a condition characterized by dry, scaly skin.
  • Loricrin mutations have been linked to Vohwinkel's Keratoderma.

Purpose of the Study:

  • To investigate the genetic basis of Vohwinkel's Keratoderma in a new family.
  • To identify mutations in the loricrin gene associated with this phenotype.

Main Methods:

  • Microsatellite marker analysis to determine genetic linkage.
  • Direct sequencing of the loricrin gene.
  • Protein structure and function prediction.

Main Results:

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  • Genetic linkage to chromosome 1q21 was established.
  • A novel heterozygous mutation (T insertion at codon 209) in the loricrin gene was identified.
  • The mutation is predicted to cause a frameshift and alter the loricrin protein structure, affecting cornified envelope formation.

    • Conclusions:

    • The identified loricrin mutation provides further evidence for the role of insertional mutations in Vohwinkel's Keratoderma with ichthyosis.
    • This finding supports the importance of loricrin in maintaining skin barrier function.