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Novel KRT83 and KRT86 mutations associated with monilethrix.

Maurice van Steensel1, Maaike Vreeburg, Maria T Urbina

  • 1Department of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands; GROW School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands; Institute of Medical Biology, Immunos, Singapore.

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Summary

Monilethrix, a rare genetic hair disorder, is caused by mutations in hard keratin genes. This study identifies new mutations, expanding the known genetic causes of this fragile hair condition.

Keywords:
KRT81KRT83KRT86hard keratinmonilethrix

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Area of Science:

  • Genetics
  • Dermatology
  • Molecular Biology

Background:

  • Monilethrix is an autosomal dominant hair disorder linked to mutations in hard keratin genes KRT81, KRT83, and KRT86.
  • Affected individuals experience fragile hair that breaks easily, potentially leading to scarring alopecia and follicular hyperkeratosis.
  • The condition is rare and possibly underreported due to mild clinical manifestations.

Discussion:

  • This research presents new cases of Monilethrix from Venezuela, the Netherlands, Belgium, and France.
  • A Venezuelan family exhibited digenic inheritance with a novel KRT86 mutation and a KRT81 variant of uncertain significance.
  • Novel mutations in KRT86 and KRT83 were identified in French and Dutch patients, respectively.

Key Insights:

  • Identified novel mutations in KRT86 and KRT83, broadening the genetic landscape of Monilethrix.
  • Documented digenic inheritance in a Venezuelan kindred, highlighting complex genetic interactions in Monilethrix.
  • Confirmed KRT81, KRT83, and KRT86 as key genes implicated in Monilethrix pathogenesis.

Outlook:

  • Further investigation into the KRT81 variant's clinical significance is warranted.
  • Expanded mutational spectrum aids in more accurate genetic diagnosis and counseling for Monilethrix.
  • Understanding digenic inheritance patterns may reveal new therapeutic targets for hair disorders.