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Recurrent E413K mutation of hHb6 in a Japanese family with monilethrix

Shigenori Muramatsu1, Tami Kimura, Rie Ueki

  • 1Department of Dermatology, Juntedo University School of Medicine, Tokyo, Japan.

Dermatology (Basel, Switzerland)
|May 29, 2003
PubMed

Insights

Monilethrix, an autosomal dominant hair disorder, is often caused by mutations in hair keratins. This study identified the common E413K mutation in hHb6 in a Japanese family, though genotype-phenotype correlation remained unclear.

Area of Science:

  • Genetics
  • Dermatology
  • Molecular Biology

Background:

  • Monilethrix is an inherited hair disorder characterized by a beaded hair shaft.
  • It is typically caused by mutations in type II hair keratins, specifically hHb1 and hHb6.

Observation:

  • A Japanese family with Monilethrix was studied.
  • The most common mutation, E413K in the hHb6 gene, was identified in this family.

Findings:

  • The E413K mutation in hHb6, previously identified in 26 other families, was confirmed.
  • No clear correlation between the genotype (E413K mutation) and the observed phenotype (Monilethrix severity) was found in this family or in previously reported cases.

Implications:

  • This study reinforces the role of hHb6 mutations in Monilethrix pathogenesis.
  • Further research is needed to understand the variable expressivity of Monilethrix and the lack of clear genotype-phenotype correlation.

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