EDA mutation as a cause of hypohidrotic ectodermal dysplasia: a case report and review of the literature

Abstract

ABSTRACT. Ectodermal dysplasia (ED) represents a collection of rare disorders that result from a failure of development of the tissues derived from the embryonic ectoderm. ED is often associated with hair, teeth, and skin abnormalities, which are serious conditions affecting the quality of life of the patient. To date, a large number of genes have been found to be associated with this syndrome. Here, we report a patient with hypohidrotic ED (HED) without family history. We identified that this patient's disorder arises from an X-linked HED with a mutation in the EDA gene (G299D) found by whole-exome sequencing. In addition, in this paper we summarize the disease-causing mutations based on current literature. Overall, recent clinical and genetic research involving patients with HED have uncovered a large number of pathogenic mutations in EDA, which might contribute to 10345 EDA mutation as a cause of HED ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 14 (3): 10344-10351 (2015) a full understanding of the function of EDA and the underlying mechanisms of HED caused by EDA mutations.

Hypohidrotic ectodermal dysplasia: clinical and molecular review

“…The newborns may suffer increases in central temperature that leads them to develop febrile seizures. The patients have problems with the thermoregulation due to a reduction in the ability to sweat causing overheating, particularly in Summer season and/or geographical regions with high average temperature, 9,10 resulting in about 30% mortality rate in early childhood. 11 In fact, the children that we reported 10 had to take showers every hour to decrease their body temperature.…”

A de novoEDA-variant in a litter of shorthaired standard Dachshunds with X-linked hypohidrotic ectodermal dysplasia

“…Many ED variants were identified in different species. More than 80 causal mutations are described in humans (Huang et al 2015). Cases in other species include mice (Srivastava et al 1997), cattle (Drögemüller et al 2001), horse (Ramzan et al 2001), fish (Kondo et al 2001) and dogs.…”

Novel mutation of EDA causes new asymmetrical X‐linked hypohidrotic ectodermal dysplasia phenotypes in a female

“…For the female carrier (mother) with heterozygous mutations in this study, the clinical features met the diagnostic criteria of HED but were milder than the male proband, such as relatively more hair and the ability to sweat, which was consistent with a previous report. 3 She also had unilateral mammary hypoplasia, which led to breast-feeding difficulty. Females with HED have been reported to have difficulties in breast-feeding due to their impaired breast development, 4 which needs to be taken into account in lactation counseling (Table 1).…”