Cover Image

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

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,...

Full description

Saved in:
Bibliographic Details
Main Authors: Constanza García-Delgado (Author), Miguel Angel Noriega-Juárez (Author), Alicia Cervantes (Author), José D Abad-Flores (Author), Mirna Toledo-Bahena (Author), Adriana Valencia-Herrera (Author), Carlos A Mena-Cedillos (Author), América Villaseñor-Domínguez (Author), Adriana Sánchez-Boiso (Author), Yumiko Akaki-Carreño (Author), Blanca Del Río-Navarro (Author), Jesús Aguirre-Hernández (Author), Marisol López-López (Author), Marco Cerbón (Author), Verónica F Morán-Barroso (Author), Nancy Monroy-Jaramillo (Author)
Format: Book
Published: Wolters Kluwer Medknow Publications, 2020-01-01T00:00:00Z.
Subjects:
article
Online Access:Connect to this object online.
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
Item Description:1027-8117
2223-330X
10.4103/ds.ds_19_20

Similar Items