Dermatologica Sinica

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


Constanza Garcia-Delgado1, Miguel Angel Noriega-Juárez1, Alicia Cervantes2, José D Abad-Flores3, Mirna Toledo-Bahena4, Adriana Valencia-Herrera4, Carlos A Mena-Cedillos4, América Villaseñor-Domínguez1, Adriana Sánchez-Boiso1, Yumiko Akaki-Carreño5, Blanca Del Río-Navarro6, Jesús Aguirre-Hernández7, Marisol López-López8, Marco Cerbón10, Verónica F Morán-Barroso1, Nancy Monroy-Jaramillo9 
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 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

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.


How to cite this article:
Garcia-Delgado C, Noriega-Juárez MA, Cervantes A, Abad-Flores JD, Toledo-Bahena M, Valencia-Herrera A, Mena-Cedillos CA, Villaseñor-Domínguez A, Sánchez-Boiso A, Akaki-Carreño Y, Río-Navarro BD, Aguirre-Hernández J, López-López M, Cerbón M, Morán-Barroso VF, Monroy-Jaramillo N. High penetrance of EDA pathogenic variants in Mexican female carriers with hypohidrotic ectodermal dysplasia.Dermatol Sin 2020;38:172-175


How to cite this URL:
Garcia-Delgado C, Noriega-Juárez MA, Cervantes A, Abad-Flores JD, Toledo-Bahena M, Valencia-Herrera A, Mena-Cedillos CA, Villaseñor-Domínguez A, Sánchez-Boiso A, Akaki-Carreño Y, Río-Navarro BD, Aguirre-Hernández J, López-López M, Cerbón M, Morán-Barroso VF, Monroy-Jaramillo N. High penetrance of EDA pathogenic variants in Mexican female carriers with hypohidrotic ectodermal dysplasia. Dermatol Sin [serial online] 2020 [cited 2020 Dec 3 ];38:172-175
Available from: https://www.dermsinica.org/article.asp?issn=1027-8117;year=2020;volume=38;issue=3;spage=172;epage=175;aulast=Garcia-Delgado;type=0