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.
Abstract: 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.
Keywords: Angelman syndrome; COL17A1; PDZD7; UBE3A; autosomal recessive deafness type 57; case report; epidermolysis bullosa.
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