Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree

Most patients suffering from Leber hereditary optic neuropathy carry one of the three classic pathologic mutations, but not all individuals with these genetic alterations develop the disease. There are different risk factors that modify the penetrance of these mutations. The remaining patients carry...

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Detalles Bibliográficos
Autores: Emperador, Sonia, Habbane, Mouna, López-Gallardo, Ester, Del Rio, Alejandro, Llobet, Laura, Mateo, Javier, Sanz-López, Ana María, Fernández-García, María José, Sánchez-Tocino, Hortensia, Benbunan-Ferreiro, Sol, Calabuig-Goena, María, Narvaez-Palazón, Carlos, Fernández-Vega, Beatriz, González-Iglesias, Héctor, Urreizti, Roser, Artuch, Rafael, Pacheu-Grau, David, Bayona-Bafaluy, Pilar, Montoya, Julio, Ruiz-Pesini, Eduardo
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2024
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/368242
Acceso en línea:http://hdl.handle.net/10261/368242
https://api.elsevier.com/content/abstract/scopus_id/85189643102
Access Level:acceso abierto
Palabra clave:Incomplete penetrance
Large pedigree
Leber hereditary optic neuropathy
Mitochondrial DNA
Pathologic mutation
Descripción
Sumario:Most patients suffering from Leber hereditary optic neuropathy carry one of the three classic pathologic mutations, but not all individuals with these genetic alterations develop the disease. There are different risk factors that modify the penetrance of these mutations. The remaining patients carry one of a set of very rare genetic variants and, it appears that, some of the risk factors that modify the penetrance of the classical pathologic mutations may also affect the phenotype of these other rare mutations.

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