De novo mutations in monilethrix.

Abstract

Mutations in the hair keratins hHb1 and hHb6 have been recently reported to cause monilethrix, an autosomal dominant hair shaft disorder, characterized by variable degrees of hair fragility and follicular hyperkeratosis. We found 10 families with monilethrix in whicn the parents were not clinically affected, and sequenced the hair keratin hHb1, hHb2 and hHb6 genes in seven patients. In five patients no mutations were found, while in two patients we identified de novo germline missense mutations at the helix termination motif: E402K (hHb6) and E413K (hHb1).

• Authors: Liran Horev, Karima Djabali, Jack Green, Rodney Sinclair, Amalia Martinez-Mir, Arieh Ingber, Angela M Christiano, Abraham Zlotogorski
• Journal: Experimental dermatology (Exp Dermatol) Vol. 12 Issue 6 Pg. 882-5 (Dec 2003) ISSN: 0906-6705 [Print] Denmark
• PMID: 14714571 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Keratins
• Lysine

Topics

• Amino Acid Motifs
• DNA Mutational Analysis
• Exons
• Genotype
• Hair Diseases (genetics)
• Heterozygote
• Homozygote
• Humans
• Hyperkeratosis, Epidermolytic (genetics)
• Keratins (chemistry, genetics)
• Lysine (chemistry)
• Microsatellite Repeats
• Mutation
• Pedigree
• Phenotype
• Protein Structure, Tertiary
• Sequence Analysis, DNA