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

hypohidrotic ectodermal dysplasia HED EDA gene EDA1R EDARADD Sanger sequencing multiplex ligation-dependent probe amplification MLPA single nucleotide polymorphisms SNPs rs3827760 rs1385699

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.

Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer

View this study on nature.com →

Discuss this study in the Community →

Research cited in this study

8 / 8 results

research Molecular Basis of Hypohidrotic Ectodermal Dysplasia: An Update

85 citations , August 2015 in “Journal of Applied Genetics”

This review discusses recent insights into the molecular mechanisms of hypohidrotic ectodermal dysplasia linked to TNFα-related signaling pathway mutations but reports no new experimental results.

research XEDAR Activates the Non-Canonical NF-κB Pathway

18 citations , August 2015 in “Biochemical and Biophysical Research Communications”

This study found that the XEDAR receptor can activate the non-canonical NF-kB pathway involving p100 processing, which is regulated by interactions with TRAF proteins and specific kinases.

research Genotype-Phenotype Correlation in Boys with X-Linked Hypohidrotic Ectodermal Dysplasia

35 citations , April 2014 in “American Journal of Medical Genetics”

The study reported a significant genotype–phenotype correlation in prepubescent males with XLHED, particularly in the severity of skin and hair manifestations between those with different EDA mutations.

A New Mutation Resulting in the Truncation of the TRAF6-Interacting Domain of XEDAR: A Possible Novel Cause of Hypohidrotic Ectodermal Dysplasia

research A New Mutation Resulting in the Truncation of the TRAF6-Interacting Domain of XEDAR: A Possible Novel Cause of Hypohidrotic Ectodermal Dysplasia

17 citations , August 2012 in “Journal of Medical Genetics”

This article reviews the genetic mutations associated with hypohidrotic ectodermal dysplasia and reports no new clinical results; the authors highlight the roles of EDA gene isoforms and related receptors.

research Characterization of X-Linked SNP Genotypic Variation in Globally Distributed Human Populations

31 citations , January 2010 in “GenomeBiology.com (London. Print)”

This study reports that X chromosomes often show greater differentiation between human populations than autosomes, likely due to a mix of demography and selection pressures.

Recent Positive Selection of a Human Androgen Receptor/Ectodysplasin A2 Receptor Haplotype and Its Relationship to Male Pattern Baldness

research Recent Positive Selection of a Human Androgen Receptor/Ectodysplasin A2 Receptor Haplotype and Its Relationship to Male Pattern Baldness

42 citations , April 2009 in “Human Genetics”

This study suggests that the AGA risk haplotype in Europeans was driven to high frequency by positive selection, likely associated with a variant in the EDA2R gene.

research Enhanced Ectodysplasin-A Receptor Signaling Alters Multiple Fiber Characteristics to Produce the East Asian Hair Form

98 citations , June 2008 in “Human mutation”

This study found that a genetic variant in the EDAR gene leads to typical East Asian hair characteristics by increasing signaling output, as shown in transgenic mice experiments.

research EDA2R Is Associated With Androgenetic Alopecia

82 citations , April 2008 in “Journal of Investigative Dermatology”

EDA2R gene linked to hair loss.