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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Ectodermal Dysplasia- A Case Report
Ectodermal Dysplasia- A Case Report
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Pdf Summary
Ectodermal dysplasia (ED) is a group of disorders characterized by abnormal development of ectodermal structures such as the hair, skin, nails, sweat glands, and teeth. There are approximately 100 forms of ED, typically inherited in either an autosomal dominant or X-linked pattern. The genetic cause of half of the forms of ED have been identified, including mutations in the TP63 gene pathway.<br /><br />This case report focuses on a variant of uncertain significance (VUS) identified in the TP63 pathway in a patient diagnosed with Ankyloblepharon-Ectodermal Dysplasia-Cleft Lip/Palate (AEC) Syndrome. The proband's mother also carried this variant. The presence of the VUS in both affected individuals strongly suggests its responsibility for the phenotype.<br /><br />Physical examination of the proband and her mother revealed multiple features consistent with AEC syndrome, including skin abnormalities, sparse hair, dry eyes, oral defects, and nail abnormalities. The TP63 gene plays a critical role in the development of ectodermal structures.<br /><br />Further testing of the proband's unaffected siblings would strengthen the argument for pathogenicity if they do not carry the variant. Additionally, accurate identification of variants is important for healthcare management and family planning.<br /><br />The report also highlights the psychological impact of ED, as the proband utilized dentures, prosthetic hair pieces, and treatments for skin and eye abnormalities to enhance her appearance.<br /><br />Overall, this case report provides compelling evidence for the pathogenicity of the TP63 variant and emphasizes the importance of proper variant classification for patient care.
Asset Subtitle
Presenting Author - Alynn M. Kruse, BS; Co-Author - Monisha Sebastin, CGC; Co-Author - Diana H. Lee, MD-PhD; Co-Author - Robert Marion, M.D.;
Meta Tag
Clinical Applications of Molecular Cytogenetics
Clinical History
Gene Localization
Genetic Testing
Genotype-Phenotype Correlations
Identification of Disease Genes
Psychosocial Counseling Issues
Psychosocial Issues
Co-Author
Monisha Sebastin, CGC
Co-Author
Diana H. Lee, MD-PhD
Co-Author
Robert Marion, M.D.
Presenting Author
Alynn M. Kruse, BS
Keywords
Ectodermal dysplasia
abnormal development
hair
skin
nails
sweat glands
teeth
TP63 gene pathway
AEC syndrome
pathogenicity
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