A Novel Monilethrix Mutation in Coil 2A of KRT86 Causing Autosomal Dominant Monilethrix with Incomplete Penetrance

June 2012 in “ British Journal of Dermatology ”

R. De Cruz, Liran Horev, J Green, Sofia Babay, Michael J Sladden, Abraham Zlotogorski, Rodney Sinclair

monilethrix KRT86 hair shaft disorder A280V mutation genetic mutation incomplete penetrance

Studysummary This study identified a novel KRT86 mutation associated with autosomal dominant monilethrix, expanding understanding of its genetic basis beyond known motifs.

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research Endocrine Controls of Keratin Expression

54 citations , March 2009 in “BioEssays”

This review discusses the complex hormonal control of keratin expression in skin and its potential implications for treating skin and hair disorders, but reports no new clinical results.

research Pitfalls of Mapping a Large Turkish Consanguineous Family With Vertical Monilethrix Inheritance

4 citations , January 2009 in “PubMed”

In this study, researchers identified an autosomal dominant mutation (E402K) in exon 7 of the KRT86 gene as a cause of Monilethrix in a large family from Turkey.

research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis

97 citations , March 2006 in “Journal of Investigative Dermatology”

This study identified four novel DSG4 mutations associated with monilethrix in 12 Jewish families, suggesting a recessive inheritance pattern and broader prevalence of DSG4-related hair disorders than previously recognized.

research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions

81 citations , March 2006 in “Journal of Investigative Dermatology”

Mutations in the DSG4 gene cause specific hair and scalp issues.

research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-Like Congenital Hypotrichosis

74 citations , January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology”

This study identified novel compound heterozygous mutations in the DSG4 gene in a Japanese patient with congenital hypotrichosis, suggesting overlap between localized autosomal recessive hypotrichosis and monilethrix.

research A Missense Mutation in the Type II Hair Keratin hHb3 Is Associated with Monilethrix

79 citations , March 2005 in “Journal of Medical Genetics”

This study identified a novel heterozygous missense mutation in the hHb3 gene associated with monilethrix, highlighting its role in this hair disorder.

research De Novo Mutations in Monilethrix

26 citations , December 2003 in “Experimental Dermatology”

In this study, researchers identified two de novo germline missense mutations in the hair keratins hHb1 and hHb6 in patients with monilethrix whose parents were not clinically affected.

research A Study of Phenotypic Correlation With the Genotypic Status of HTM Regions of KRTHB6 and KRTHB1 Genes in Monilethrix Families of Indian Origin

4 citations , October 2003 in “Annales de Génétique”

This study identified a mutation in the KRTHB6 gene in two monilethrix families of Indian origin, linking specific genetic variations to different severities of hair defects within the families.

research Recurrent Missense Mutations in the Hair Keratin Gene HHb6 in Monilethrix

21 citations , March 2003 in “Clinical and Experimental Dermatology”

This study found two recurrent missense mutations in the hHb6 gene associated with monilethrix in families from Russia and Colombia, supporting their role in this hair disorder worldwide.

research Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix

10 citations , January 2003 in “Dermatology”

This study describes a Japanese family with monilethrix and found no clear genotype/phenotype correlation in cases with the E413K mutation in hHb6.

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

32 citations , January 2000 in “Human Heredity”

This study found that the mutation Glu402Lys in keratin hHb6 may be associated with monilethrix, and homozygous patients in a consanguineous family exhibited more severe symptoms.

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”

New mutations in hair keratin genes cause the rare hair disorder monilethrix.

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”

A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.

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

26 citations , October 1998 in “Experimental Dermatology”

This study describes a co-dominant E410D mutation in keratin hHb6 associated with severe hair loss and extensive papules in homozygous individuals, with variable expression in heterozygous family members.

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”

A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of 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”

This study found that monilethrix in three unrelated European families is linked to the type II keratin gene cluster on chromosome 12q13, with no evidence of defects in type I keratins.

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

175 citations , August 1997 in “Nature Genetics”

research Evidence for Genetic Heterogeneity in Monilethrix

30 citations , December 1996 in “Journal of Investigative Dermatology”

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

54 citations , January 1995 in “Human Molecular Genetics”

This study mapped monilethrix, a hereditary hair and nail disorder, to the type II keratin cluster on chromosome 12q, marking the first primary human hair disorder localization and implicating defects in "hard" keratins.