LAUSR

tern. The cDNA expression of the father was normal (Fig. 2f). Skewed XCI patterns have previously been observed in female individuals with XLHED. It was interesting in our case that both girl and her mother had their XCI skewed, but in opposite directions. In conclusion, we report a novel 1-bp deletion mutation located in TNF homologous domain of EDA resulting in a severe phenotype of XLHED, with skewed XCI in both the patient and her mother, which is the first report of such a case, to our knowledge.