Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report

Key Clinical Message The presence of more than one genetic/genomic disorder is not uncommon. It is therefore essential to continuously consider new signs and symptoms over time. Administration of gene therapy could be extremely difficult in particular situations. A 9‐month‐old boy presented to our d...

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Bibliographic Details
Published in:Clinical case reports 2023-04, Vol.11 (4), p.e7275-n/a
Main Authors: Amato, Maria Eugenia, Ricart, Silvia, Vicente, Maria Asunción, Martorell, Loreto, Armstrong, Judith, Fernández Isern, Guerau, Mascaro, José Manuel, Balsells, Sol, Alonso, Itziar, Serrano, Mercedes, Ortigoza‐Escobar, Juan Darío
Format: Article
Language:English
Subjects:
Age
Angelman syndrome
autosomal recessive deafness type 57
Births
Case Report
Case reports
Child development
COL17A1
Convulsions & seizures
Ears & hearing
epidermolysis bullosa
Epilepsy
Failure to thrive
Families & family life
Genes
Hearing loss
Mutation
Parents & parenting
Patients
PDZD7
Skin
UBE3A
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Summary:Key Clinical Message The presence of more than one genetic/genomic disorder is not uncommon. It is therefore essential to continuously consider new signs and symptoms over time. Administration of gene therapy could be extremely difficult in particular situations. A 9‐month‐old boy presented to our department for evaluation of developmental delay. We found that he was affected by intermediate junctional epidermolysis bullosa (COL17A1, c.3766 + 1G > A, homozygous), Angelman syndrome (5,5 Mb deletion of 15q11.2‐q13.1), and autosomal recessive deafness type 57 (PDZD7, c.883C > T, homozygous). This case report highlights the value of reanalyzing genetic data in patients with rare diseases and developmental delay. It also emphasizes the importance of considering potential superimposed diagnoses in individuals with multiple genetic variants. Early diagnosis and intervention can improve outcomes and prevent further complications in affected patients.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.7275