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Genet Mol Res. 2015 Aug 28;14(3):10344-51. doi: 10.4238/2015.August.28.21.

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

Author information

1
Medical Center of Stomatology of the Second Clinical Medical College, Jinan University, Shenzhen People's Hospital, Shenzhen, China.
2
BGI Shenzhen, Shenzhen, China.
3
Guangxi Key Laboratory of Metabolic Diseases Research, Central Laboratory of Guilin 181st Hospital, Guilin, China.
4
Clinical Medical Research Center of the Second Clinical Medical College, Jinan University, Shenzhen People's Hospital, Shenzhen, China daiyong2222@gmail.com.

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 a full understanding of the function of EDA and the underlying mechanisms of HED caused by EDA mutations.

PMID:
26345974
DOI:
10.4238/2015.August.28.21
[Indexed for MEDLINE]
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