A 24-year old man was hospitalized because of a severe asthmatic attack in August 2003. The asthma attack was well controlled by mechanical ventilation, intravenous hydrocortisone and inhaled beta2-agonist. Physical examination revealed sparse hair, reduced sweating and hypodontia. We also confirmed the absence of sweat glands in a biopsied skin specimen. The diagnosis based on these findings was anhidrotic ectodermal dysplasia A mutation in the EDA (ectodysplasin-A) gene which led to an X-linked anhidrotic ectodermal dysplasia was found, and the same genetic mutation was detected in the patient's mother.
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Corrigendum: A new variant of the ectodysplasin A receptor death domain gene associated with anhidrotic ectodermal dysplasia in a Turkish family and its simple diagnosis by restriction fragment length polymorphism [Genes Genet. Syst. (2023) 98, p. 171-178].
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Department of Biology, Institute of Graduate Education, Adiyaman University.
The ClinVar accession number on p. 176 (SCV002817173) should be replaced with the correct number, SCV002817373. The PDF file for DOI: https://doi.
View Article and Find Full Text PDFHypohidrotic ectodermal dysplasia caused by an intragenic duplication in EDAR.
Eur J Med Genet
December 2024
Department of Clinical Genetics, Aarhus University Hospital, Olof Palmes Allé 49, 8200 Aarhus N, Denmark.
Hypohidrotic Ectodermal Dysplasia is a syndrome with hypotrichosis, hypohidrosis, and hypodontia as the main symptoms. The prevalence is estimated to one in 5000-10,000 persons. In 10-15% the disease is caused by pathogenic variants in EDAR, and most of the known causal variants to date are missense or nonsense variants.
View Article and Find Full Text PDF[Hypohidrotic ectodermal dysplasia with EDA gene variant in 2 children].
Zhonghua Er Ke Za Zhi
October 2024
Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Henan Provincial Clinical Research Center for Pediatric Diseases, Henan Children's Neurodevelopmental Engineering Research Center, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou 450018, China.
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Department of Neurology, National Institute of Mental Health and Neuro Sciences, Bengaluru, Karnataka, India.
Article Synopsis
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Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia.
Genes (Basel)
June 2024
Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, Switzerland.
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