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 present...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10126752/
https://www.ncbi.nlm.nih.gov/pubmed/37113642
http://dx.doi.org/10.1002/ccr3.7275
Descripción
Sumario: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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