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.
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).
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Overview publication
| Title | Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report. |
| Date | 2023-04-01 |
| Issue name | Clinical case reports |
| Issue number | v11.4:e7275 |
| DOI | 10.1002/ccr3.7275 |
| PubMed | 37113642 |
| Authors | |
| Keywords | Angelman syndrome, COL17A1, PDZD7, UBE3A, autosomal recessive deafness type 57, case report, epidermolysis bullosa |
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