Monilethrix: Mutational hotspot in the helix termination motif of the human hair basic keratin 6

L. Horev, B. Glaser, A. Metzker, D. Ben-Amitai, D. Vardy, A. Zlotogorski

Research output: Contribution to journalArticlepeer-review

29 Scopus citations

Abstract

Monilethrix is a rare autosomal dominant disease characterized by hair fragility and follicular hyperkeratosis. Mutations in the human basic hair keratins hHb1 and hHb6 have recently been reported in this disease. Twelve families and sporadic cases were clinically diagnosed with monilethrix and were available for the study. The gene segment encoding the helix termination motif region of keratin hHb6 was PCR amplified and sequenced. Mutations were recognized in 6 families. Four families had the previously described mutations, Glu413Lys and Glu413Asp. In 2 unrelated families, a novel mutation, Glu402Lys, was identified. No clear association was found between the severity of the phenotype and the mutation carried. Furthermore, heterozygous members of the same family had variable degrees of hair and skin involvement. Homozygous patients identified in one large consanguineous family were more severely affected. Other genetic or environmental factors may also play a role in monilethrix. Copyright (C) 2000 S. Karger AG, Basel.

Original languageEnglish
Pages (from-to)325-330
Number of pages6
JournalHuman Heredity
Volume50
Issue number5
DOIs
StatePublished - 1 Jan 2000
Externally publishedYes

Keywords

  • Hair
  • Helix termination motif
  • Hotspot
  • Monilethrix
  • hHb6 keratin

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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