High penetrance of EDA pathogenic variants in Mexican female carriers with hypohidrotic ectodermal dysplasia
Por:
García-Delgado C., Noriega-Juárez M., Cervantes A., Abad-Flores J., Toledo-Bahena M., Valencia-Herrera A., Mena-Cedillos C., Villaseñor-Domínguez A., Sánchez-Boiso A., Akaki-Carreño Y., Río-Navarro B., Aguirre-Hernández J., López-López M., Cerbón M., Morán-Barroso V., Monroy-Jaramillo N.
Publicada:
1 ene 2020
Categoría:
Dermatology
Resumen:
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. © 2020 Dermatologica Sinica Published by Wolters Kluwer - Medknow.
Filiaciones:
García-Delgado C.:
Department of Genetics, Children's Hospital of Mexico Federico Gomez, Mexico City, Mexico
Noriega-Juárez M.:
Department of Genetics, Children's Hospital of Mexico Federico Gomez, Mexico City, Mexico
Cervantes A.:
Service of Genetics General Hospital of Mexico Dr. Eduardo Liceaga, Faculty of Medicine, National Autonomous University of Mexico, Mexico City, Mexico
Abad-Flores J.:
Department of Genetics, National Institute of Neurology and Neurosurgery Manuel Velasco Suarez, Mexico City, Mexico
Human Reproduction Research Unit, National Institute of Perinatology Isidro Espinosa de Los Reyes, Faculty of Chemistry, National Autonomous University of Mexico, Mexico City, Mexico
Toledo-Bahena M.:
Department of Dermatology, Children's Hospital of Mexico Federico Gomez, Mexico City, Mexico
Valencia-Herrera A.:
Department of Dermatology, Children's Hospital of Mexico Federico Gomez, Mexico City, Mexico
Mena-Cedillos C.:
Department of Dermatology, Children's Hospital of Mexico Federico Gomez, Mexico City, Mexico
Villaseñor-Domínguez A.:
Department of Genetics, Children's Hospital of Mexico Federico Gomez, Mexico City, Mexico
Sánchez-Boiso A.:
Department of Genetics, Children's Hospital of Mexico Federico Gomez, Mexico City, Mexico
Akaki-Carreño Y.:
Department of Genetics, Children's Hospital of Mexico Federico Gomez, Mexico City, Mexico
Department of Dermatology, Children's Hospital of Mexico Federico Gomez, Mexico City, Mexico
Río-Navarro B.:
Department of Immunology and Allergy, Children's Hospital of Mexico Federico Gomez, Mexico City, Mexico
Aguirre-Hernández J.:
Laboratory of Genomics Genetics and Bioinformatics, Children's Hospital of Mexico Federico Gomez, Mexico City, Mexico
López-López M.:
Department of Biological Systems, Autonomous Metropolitan University-Xochimilco, Mexico City, Mexico
Cerbón M.:
Human Reproduction Research Unit, National Institute of Perinatology Isidro Espinosa de Los Reyes, Faculty of Chemistry, National Autonomous University of Mexico, Mexico City, Mexico
Morán-Barroso V.:
Department of Genetics, Children's Hospital of Mexico Federico Gomez, Mexico City, Mexico
Monroy-Jaramillo N.:
Department of Genetics, National Institute of Neurology and Neurosurgery Manuel Velasco Suarez, Mexico City, Mexico
|