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

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

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research The Catalog of Human Hair Keratins

272 citations , September 2001 in “Journal of Biological Chemistry”

Human hair keratins were cataloged, showing their roles in hair differentiation stages.

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

32 citations , January 2000 in “Human Heredity”

Monilethrix severity varies and may be influenced by other genetic or environmental factors.

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

20 citations , December 1999 in “Journal of Investigative Dermatology”

Mutations in the hHb6 gene cause the hair disorder monilethrix.

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

62 citations , October 1999 in “Journal of Investigative Dermatology”

New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.

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

29 citations , August 1999 in “Journal of Investigative Dermatology”

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

34 citations , November 1998 in “Journal of Investigative Dermatology”

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

26 citations , October 1998 in “Experimental Dermatology”

A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.

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

47 citations , July 1998 in “Journal of Investigative Dermatology”

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

100 citations , November 1997 in “Human Genetics”

A new mutation in the hHb1 keratin gene is linked to the 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

21 citations , September 1997 in “British Journal of Dermatology”

Monilethrix is linked to the type II keratin gene on chromosome 12q13.

research Monilethrix: An Ultrastructural Study

34 citations , December 1984 in “Journal of Cutaneous Pathology”

Monilethrix hair issues are due to problems in the hair's internodes.