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5 results on '"Garrido-Moraga, Rocío"'

2. A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene

Author

Amate-García, Guillermo, primary, Ballesta-Martínez, María Juliana, additional, Serrano-Lorenzo, Pablo, additional, Garrido-Moraga, Rocío, additional, González-Quintana, Adrián, additional, Blázquez, Alberto, additional, Rubio, Juan C., additional, García-Consuegra, Inés, additional, Arenas, Joaquín, additional, Ugalde, Cristina, additional, Morán, María, additional, Guillén-Navarro, Encarnación, additional, and Martín, Miguel A., additional

Published
2023
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3. Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma.

Author

González-Quintana, Adrián, Garrido-Moraga, Rocío, Palencia-Pérez, Sara I., Hernández-Martín, Ángela, Sánchez-Munárriz, Jon, Lezana-Rosales, José M., Quesada-Espinosa, Juan F., Martín, Miguel A., and Arteche-López, Ana

Subjects
*GENE expression, *RECESSIVE genes, *GENETIC variation, *PHENOTYPES, *HUMAN phenotype, *MOLECULAR diagnosis
Abstract

Hereditary palmoplantar keratodermas (PPKs) are a clinically and genetically heterogeneous group of disorders characterized by excessive epidermal thickening of palms and soles. Several genes have been associated with PPK including PERP, a gene encoding a crucial component of desmosomes that has been associated with dominant and recessive keratoderma. We report a patient with recessive erythrokeratoderma (EK) in which whole exome sequencing (WES) prioritized by human phenotype ontology (HPO) terms revealed the presence of the novel variant c.153C > A in the N-terminal region the PERP gene. This variant is predicted to have a nonsense effect, p.(Cys51Ter), resulting in a premature stop codon. We demonstrated a marked reduction in gene expression in cultured skin fibroblasts obtained from the patient. Despite the PERP gene is expressed at low levels in fibroblasts, our finding supports a loss-of-function (LoF) mechanism for the identified variant, as previously suggested in recessive EK. Our study underscores the importance of integrating HPO analysis when using WES for molecular genetic diagnosis in a clinical setting, as it facilitates continuous updates regarding gene–clinical feature associations. [ABSTRACT FROM AUTHOR]

Published
2023
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4. Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI)

Author

Serrano-Lorenzo, Pablo, primary, Rabasa, María, additional, Esteban, Jesús, additional, Hidalgo Mayoral, Irene, additional, Domínguez-González, Cristina, additional, Blanco-Echevarría, Agustín, additional, Garrido-Moraga, Rocío, additional, Lucia, Alejandro, additional, Blázquez, Alberto, additional, Rubio, Juan C., additional, Palma-Milla, Carmen, additional, Arenas, Joaquín, additional, and Martín, Miguel A., additional

Published
2022
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5. Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis

Author

García-Consuegra, Inés, primary, Asensio-Peña, Sara, additional, Garrido-Moraga, Rocío, additional, Pinós, Tomàs, additional, Domínguez-González, Cristina, additional, Santalla, Alfredo, additional, Nogales-Gadea, Gisela, additional, Serrano-Lorenzo, Pablo, additional, Andreu, Antoni L., additional, Arenas, Joaquín, additional, Zugaza, José L., additional, Lucia, Alejandro, additional, and Martín, Miguel A., additional

Published
2022
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