Summary
Ectodermal dysplasias (ED) are a group of genetic conditions that can affect hair, teeth, nails, and sweat glands, sometimes leading to serious health issues like overheating and infections. To better understand the genetic causes of ED, we reviewed results from 250 patients who underwent next-generation sequencing (NGS) panel testing. These panels analyzed multiple genes, including both coding regions and known disease-associated noncoding variants, and also included copy number variant analysis.
We found that 45% of patients had a positive genetic result. Variants were identified in 13 genes, with EDA and WNT10A most frequently involved. Six percent of positive cases were explained by a copy number variant ≤ 1 exon in size or a noncoding variant.
These findings show that multigene panels are highly effective for diagnosing ED and highlight the importance of including both CNV detection and noncoding variants in genetic testing.
Authors:
Kim Gall, Allison Sluyters, Milja Kaare, Kaisa Kyöstilä, Whitney Dodge, Julie Hathaway, Khalida Liaquat, Emily Partack, Inka Saarinen, Tiia Kangas-Kontio, Lotta Koskinen, Eija Seppala, Kirsi Alakurtti, Emma Martensson, Mikko Muona, Tuuli Pietila, Matias Rantanen, Massimiliano Gentile, Pertteli Salmenperä, Jussi Paananen, Samuel Myllykangas, Juha Koskenvuo