Detalle Publicación


Cutaneous lesions and mitochondrial hearing loss: a case report

Autores: Moreno-Artero, E.; Imizcoz Fabra, Teresa; Prieto Matos, Carlos; Manrique Huarte, Raquel; González-Canete, M.; Manrique Rodríguez, Manuel Jesús; Torrelo, A. (Autor de correspondencia)
Título de la revista: PEDIATRIC DERMATOLOGY
ISSN: 0736-8046
Volumen: 40
Número: 3
Páginas: 534 - 536
Fecha de publicación: 2023
Pathogenic sequence changes in mitochondrial DNA (mtDNA) are one of the most common causes of genetic hearing loss. We report an infant with palmoplantar hyperkeratosis, extrapalmoplantar cutaneous features and mitochondrial sensorineural hearing loss caused by the previously reported pathogenic NC_012920:m.7445A > G sequence change in the mitochondrial gene COX1 (COX1, MT-CO1). Next generation sequencing- based technology was key for the diagnosis and management of this patient.