2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Ectodermal Dysplasia- A Case Report

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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