Novel D323G Mutation of DSG4 Gene in a Girl with Localized Autosomal Recessive Hypotrichosis Clinically Overlapped with Monilethrix

    July 2015 in “ International Journal of Dermatology ”
    Jia‐Man Wang, Yu‐Juan Xiao, Yanhua Liang
    Studysummary This study reports that a homozygous A1103G mutation in DSG 4 is responsible for localized autosomal recessive hypotrichosis in a 2-year-old Chinese girl, resulting in reduced DSG 4 expression and hair defects.
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    Research cited in this study 12

    1. Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability Within a Pakistani Family ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2007
    2. An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2006
    3. Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions Journal of Investigative Dermatology · 2006
    4. Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-Like Congenital Hypotrichosis ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2006
    5. A Missense Mutation in the Cadherin Interaction Site of the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2005
    6. A Missense Mutation in the Type II Hair Keratin hHb3 Is Associated with Monilethrix Journal of Medical Genetics · 2005
    7. A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2004
    8. The Lanceolate Hair Rat Phenotype Results from a Missense Mutation in a Calcium Coordinating Site of the Desmoglein 4 Gene Genomics · 2004
    9. Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6 Human Heredity · 2000
    10. 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
    11. A New Mutation in the Type II Hair Cortex Keratin hHb1 Involved in the Inherited Hair Disorder Monilethrix Human Genetics · 1997
    12. Mutations in the Hair Cortex Keratin HHB6 Cause the Inherited Hair Disease Monilethrix Nature Genetics · 1997

    Related research 7

    1. Value of Dermoscopy for the Diagnosis of Monilethrix Dermatology online journal · 2017
    2. Novel D323G Mutation of DSG4 Gene in a Girl with Localized Autosomal Recessive Hypotrichosis Clinically Overlapped with Monilethrix International Journal of Dermatology · 2015
    3. Expression of E6 and E7 Papillomavirus Oncogenes in the Outer Root Sheath of Hair Follicles Extends the Growth Phase and Bypasses Resting at Telogen PubMed · 2000
    4. Congenital Hypotrichosis Due to Short Anagen Phase British Journal of Dermatology · 2000
    5. Effects of Epidermal Growth Factor on the Morphology and Patterns of DNA Synthesis in Isolated Human Hair Follicles ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 1994
    6. Diseases of the Hair and Scalp Medical Entomology and Zoology · 1991
    7. Outer Root Sheath Keratinization in Anagen and Catagen of the Mammalian Hair Follicle: A Seventh Distinct Type of Keratinization in the Hair Follicle - Trichilemmal Keratinization PubMed · 1981