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Catalog
2023 ACMG Annual Clinical Genetics Meeting Digital ...
Novel Variant in
DSP
Associated with Leth ...
Novel Variant in
DSP
Associated with Lethal Acantholytic Epidermolysis Bullosa and Bradyarrhythmia
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Pdf Summary
This document discusses a case presentation of a newborn with a rare condition called lethal acantholytic epidermolysis bullosa (LAEB) and third-degree heart block. The prenatal history reveals fetal growth restriction and abnormally small long bones. The neonate is born via cesarean section and exhibits extensive skin peeling and exposed dermis. Dysmorphology exam findings include low set ears, superficial palmar clefts, triangular thumbs, and syndactyly of the toes. Dermatologic findings show epidermal separation, subepidermal separation, and acantholysis with areas of necrosis. Cardiac findings include a patent ductus arteriosus, patent foramen ovale, and right ventricular dilation. On the 17th day of life, the newborn develops bradycardia and hypotension. The cytogenetic and molecular diagnosis reveals a pathogenic variant in the DSP gene, which codes for the protein desmoplakin. This case expands our understanding of the variants in DSP and the associated prenatal and postnatal phenotypes. The baby unfortunately experiences cardiopulmonary failure and dies on the 20th day of life. The case also suggests the presence of a founder variant in a population not previously sequenced, as indicated by the biparental inheritance of the same variant without known consanguinity. Various references are cited to support the discussion, including studies on twins with LAEB caused by DSP mutations, a case of LAEB with arrhythmogenic cardiomyopathy, and research on patients with genetic variation in desmoplakin and arrhythmogenic right ventricular cardiomyopathy.
Asset Subtitle
Presenting Author - Asha N. Talati, MD, MS; Co-Author - Joseph Cornett, MD; Co-Author - Brianna Frame, MD; Co-Author - Emily E. Hardisty, MS, CGC; Co-Author - Sarah White, MD; Co-Author - Neeta L. Vora, MD, FACMG; Co-Author - Elizabeth R. Jalazo, MD;
Meta Tag
Bone/Joint Abnormalities
Cardiovascular System
Congenital Anomaly
Dysmorphology
Fetal Pathology
Genome sequencing
Genotype-Phenotype Correlations
Malformation
Phenotype
Co-Author
Joseph Cornett, MD
Co-Author
Brianna Frame, MD
Co-Author
Emily E. Hardisty, MS, CGC
Co-Author
Sarah White, MD
Co-Author
Neeta L. Vora, MD, FACMG
Co-Author
Elizabeth R. Jalazo, MD
Presenting Author
Asha N. Talati, MD, MS
Keywords
lethal acantholytic epidermolysis bullosa
third-degree heart block
fetal growth restriction
small long bones
cesarean section
skin peeling
exposed dermis
low set ears
superficial palmar clefts
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