A Novel EDA Variant That Causes X-Linked Hypohidrotic Ectodermal Dysplasia in a Chinese Family

    August 2025 in “ BMC Pregnancy and Childbirth
    Limin Yao, Lilan Wan, Yunhong Lin, Yinhong Zhang, Xilun Cai, Jianhong Ye, Guangyu He, Baosheng Zhu, Jinman Zhang
    This study presents a case of a Chinese family where a novel EDA gene variant (c.806G > T, p.Gly269Val) was identified as causing X-linked hypohidrotic ectodermal dysplasia (XLHED). A prenatal ultrasound at 23 weeks gestation revealed signs of the disorder, leading to the decision to terminate the pregnancy. The diagnosis was confirmed post-abortion through Sanger sequencing of fetal tissue. The findings highlight the effectiveness of prenatal ultrasonography in screening for ectodermal dysplasia and expand the known range of EDA variants, aiding in accurate diagnosis and informed reproductive choices for potential patients.
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