• Users Online: 39
  • Print this page
  • Email this page
BRIEF REPORT
Year : 2020  |  Volume : 38  |  Issue : 3  |  Page : 172-175

High penetrance of EDA pathogenic variants in Mexican female carriers with hypohidrotic ectodermal dysplasia


1 Department of Genetics, Children's Hospital of Mexico Federico Gómez, Mexico City, Mexico
2 Service of Genetics, General Hospital of Mexico Dr. Eduardo Liceaga/Faculty of Medicine, National Autonomous University of Mexico, Mexico City, Mexico
3 Department of Genetics, National Institute of Neurology and Neurosurgery Manuel Velasco Suárez; Human Reproduction Research Unit, National Institute of Perinatology Isidro Espinosa de los Reyes, Mexico City, Mexico/Faculty of Chemistry, National Autonomous University of Mexico, Mexico City, Mexico
4 Department of Dermatology, Children's Hospital of Mexico Federico Gómez, Mexico City, Mexico
5 Department of Genetics; Department of Dermatology, Children's Hospital of Mexico Federico Gómez, Mexico City, Mexico
6 Department of Immunology and Allergy, Children's Hospital of Mexico Federico Gómez, Mexico City, Mexico
7 Laboratory of Genomics, Genetics and Bioinformatics, Children's Hospital of Mexico Federico Gómez, Mexico City, Mexico
8 Department of Biological Systems, Autonomous Metropolitan University-Xochimilco, Mexico City, Mexico
9 Human Reproduction Research Unit, National Institute of Perinatology Isidro Espinosa de los Reyes, Mexico City, Mexico/Faculty of Chemistry, National Autonomous University of Mexico, Mexico City, Mexico
10 Department of Genetics, National Institute of Neurology and Neurosurgery Manuel Velasco Suárez, Mexico City, Mexico

Correspondence Address:
Dr. Nancy Monroy-Jaramillo
Insurgentes Sur 3877, La Fama, Tlalpan, 14269 Mexico City
Mexico
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ds.ds_19_20

Rights and Permissions

X-linked hypohidrotic ectodermal dysplasia (XLHED) is caused by EDA pathogenic variants. Female carriers show several clinical manifestations in variable percentages. We studied 11 Mexican heterozygous females with an EDA variant. The most frequent symptoms were similar to previous reports; however, two females (18%) reported dry eye syndrome, data rarely explored in carriers. The penetrance was 91% with clinical variability that might be related to the location of the mutation and/or to a skewed X-inactivation pattern. Our results highlight the importance of offering molecular testing to potential female carriers and support XLHED as an X-linked entity with incomplete penetrance in females.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed66    
    Printed6    
    Emailed0    
    PDF Downloaded14    
    Comments [Add]    

Recommend this journal