Recurrent Missense Mutations in the Hair Keratin Gene HHb6 in Monilethrix

March 2003 in “ Clinical and Experimental Dermatology ”

Karima Djabali, Andrey A. Panteleyev, T. Waran Lalin, María C. Garzon, B. Jack Longley, David R. Bickers, Abraham Zlotogorski, Angela M. Christiano

monilethrix hair keratin hHb6 hHb1 alopecia hair fragility dystrophic alopecia

TLDR Mutations in the hHb6 gene cause the hair disorder monilethrix.

Monilethrix, an autosomal dominant hair disorder causing hair fragility and patchy dystrophic alopecia, was linked to mutations in hair-specific keratins hHb1 and hHb6. This study investigated two unrelated families from Russia and Colombia, identifying two missense mutations in hHb6: E402K in the Russian family and E413K in the Colombian family. These mutations, which have also been found in European families, supported the role of recurrent hHb6 and hHb1 mutations in monilethrix globally.

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research A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients

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Recurrent Missense Mutations in the Hair Keratin Gene HHb6 in Monilethrix

Research cited in this study

research Atrichia Caused by Mutations in the Vitamin D Receptor Gene Is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene

research The Catalog of Human Hair Keratins

research Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6

research Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix

research Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype

research Monilethrix: A Novel Mutation (Glu402Lys) in the Helix Termination Motif and the First Causative Mutation (Asn114Asp) in the Helix Initiation Motif of the Type II Hair Keratin hHb6

research A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients

research Monilethrix: A Keratin HHb6 Mutation Is Co-Dominant With Variable Expression

research A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1

research A New Mutation in the Type II Hair Cortex Keratin hHb1 Involved in the Inherited Hair Disorder Monilethrix

research Mapping of Monilethrix to the Type II Keratin Gene Cluster at Chromosome 12q13 in Three New Families, Including One with Variable Expressivity

research Mutations in the Hair Cortex Keratin HHB6 Cause the Inherited Hair Disease Monilethrix

research Sequence Data and Chromosomal Localization of Human Type I and Type II Hair Keratin Genes

research A Gene for Monilethrix Is Closely Linked to the Type II Keratin Gene Cluster at 12q13

research Monilethrix: An Ultrastructural Study

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