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 … Rodney Sinclair
    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 cited in this study 21

    1. Endocrine Controls of Keratin Expression BioEssays · 2009
    2. Pitfalls of Mapping a Large Turkish Consanguineous Family With Vertical Monilethrix Inheritance PubMed · 2009
    3. An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2006
    4. Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions Journal of Investigative Dermatology · 2006
    5. Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-Like Congenital Hypotrichosis ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2006
    6. A Missense Mutation in the Type II Hair Keratin hHb3 Is Associated with Monilethrix Journal of Medical Genetics · 2005
    7. De Novo Mutations in Monilethrix Experimental Dermatology · 2003
    8. A Study of Phenotypic Correlation With the Genotypic Status of HTM Regions of KRTHB6 and KRTHB1 Genes in Monilethrix Families of Indian Origin Annales de Génétique · 2003
    9. Recurrent Missense Mutations in the Hair Keratin Gene HHb6 in Monilethrix Clinical and Experimental Dermatology · 2003
    10. Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix Dermatology · 2003
    11. Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6 Human Heredity · 2000
    12. Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix Journal of Investigative Dermatology · 1999
    13. Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype Journal of Investigative Dermatology · 1999
    14. 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 Journal of Investigative Dermatology · 1999
    15. A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients Journal of Investigative Dermatology · 1998
    16. Monilethrix: A Keratin HHb6 Mutation Is Co-Dominant With Variable Expression Experimental Dermatology · 1998
    17. A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1 Journal of Investigative Dermatology · 1998
    18. Mapping of Monilethrix to the Type II Keratin Gene Cluster at Chromosome 12q13 in Three New Families, Including One with Variable Expressivity British Journal of Dermatology · 1997
    19. Mutations in the Hair Cortex Keratin HHB6 Cause the Inherited Hair Disease Monilethrix Nature Genetics · 1997
    20. Evidence for Genetic Heterogeneity in Monilethrix Journal of Investigative Dermatology · 1996
    21. A Gene for Monilethrix Is Closely Linked to the Type II Keratin Gene Cluster at 12q13 Human Molecular Genetics · 1995