A case report of X-linked hypohidrotic ectodermal dysplasia caused by novel mutation of EDA gene
Objective To investigate the clinical symptoms and gene phenotype of children with X-linked hypo-hidrotic ectodermal dysplasia type 1(XLHED1)caused by EDA gene mutation,and to provide reference for clinical diagnosis.Methods A children with XLHED caused by EDA gene mutation was diagnosed by gene detection.The clinical features,laboratory test results,related imaging examinations and gene mutation were retrospectively analyzed,and the relevant litera-ture was reviewed.Results The main clinical manifestations of the child were mild decrease in sweating ability,mild loss of teeth,and severe sparse hair.Whole exome sequencing showed that the patient had a hemizygous mutation c.422C＞T(p.S141F)in the EDA gene,and the protein function was predicted to be damaged.Conclusion This is the first report of a boy with XLHED caused by the c.422C＞T mutation in the EDA gene,which has expanded the gene mutation spectrum of XLHED and deepen the clinical understanding of the disease.
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