Mutational Spectrum in 101 Patients with Hypohidrotic Ectodermal Dysplasia and Breakpoint Mapping in Independent Cases of Rare Genomic Rearrangements

    June 2016 in “ Journal of Human Genetics ”
    Sigrun Wohlfart, Johanna Hammersen, Holm Schneider
    Studysummary This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.
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    Research cited in this study 8

    1. Molecular Basis of Hypohidrotic Ectodermal Dysplasia: An Update Journal of Applied Genetics · 2015
    2. XEDAR Activates the Non-Canonical NF-κB Pathway Biochemical and Biophysical Research Communications · 2015
    3. Genotype-Phenotype Correlation in Boys with X-Linked Hypohidrotic Ectodermal Dysplasia American Journal of Medical Genetics · 2014
    4. A New Mutation Resulting in the Truncation of the TRAF6-Interacting Domain of XEDAR: A Possible Novel Cause of Hypohidrotic Ectodermal Dysplasia Journal of Medical Genetics · 2012
    5. Characterization of X-Linked SNP Genotypic Variation in Globally Distributed Human Populations GenomeBiology.com (London. Print) · 2010
    6. Recent Positive Selection of a Human Androgen Receptor/Ectodysplasin A2 Receptor Haplotype and Its Relationship to Male Pattern Baldness Human Genetics · 2009
    7. Enhanced Ectodysplasin-A Receptor Signaling Alters Multiple Fiber Characteristics to Produce the East Asian Hair Form Human mutation · 2008
    8. EDA2R Is Associated With Androgenetic Alopecia Journal of Investigative Dermatology · 2008