A novel c. 916C> A EDA gene pathogenic variant in a boy with X-Linked Hypohidrotic Ectodermal Dysplasia

Abstract

In this paper we describe a novel EDA variant in a boy with X-linked hypohidrotic ectodermal dysplasia (XLHED). We scrutinize the impact of this mutation and show a rendered molecular model of the altered protein. A 17-month-old boy presented to the genetic clinic with anodontia, hypohidrosis, scalp hypotrichosis, atrichia of the eyelashes, xerotic skin and a short columella. A diagnosis of XLHED was considered. The patient had been born at 38 weeks by emergency lower segment Caesarean section in view of fetal decelerations in the setting of documented intrauterine growth restriction (birth weight was 2.49 kg; 2.5th centile for age). The boy’s parents were a healthy nonconsanguineous couple of white Maltese ethnicity and the genetic family history of the patient was unremarkable.