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

Abstract

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.

Keywords

• eda gene
• heterozygous eda female carriers
• hypohidrotic ectodermal dysplasia
• penetrance
• variable expressivity