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Your search keyword '"Damian, Alejandra"' showing total 8 results
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8 results on '"Damian, Alejandra"'

1. Genetic background of congenital aniridia

Author

Damian, Alejandra, primary, Blanco‐Kelly, Fiona, additional, Tamayo, Alejandra, additional, Swafiri, Saoud T., additional, Villaverde, Cristina, additional, Ruiz‐Sánchez, Carolina, additional, Tory, Kálmán, additional, Szentmáry, Nóra, additional, Ayuso, Carmen, additional, and Corton, Marta, additional

Published
2024
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2. Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia

Author

Tamayo, Alejandra, primary, Núñez-Moreno, Gonzalo, additional, Ruiz, Carolina, additional, Plaisancie, Julie, additional, Damian, Alejandra, additional, Moya, Jennifer, additional, Chassaing, Nicolas, additional, Calvas, Patrick, additional, Ayuso, Carmen, additional, Minguez, Pablo, additional, and Corton, Marta, additional

Published
2023
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3. New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in theRFC1gene

Author

Arteche‐López, Ana, primary, Avila‐Fernandez, Almudena, additional, Damian, Alejandra, additional, Soengas‐Gonda, Emma, additional, de la Fuente, Rubén Pérez, additional, Gómez, Patricia Ramos, additional, Merlo, Jesús Gallego, additional, Burgos, Laura Horcajada, additional, Fernández, Carlos Cemillán, additional, Rosales, Jose Miguel Lezana, additional, Martínez, Juan Francisco González, additional, Quesada‐Espinosa, Juan Francisco, additional, Corton, Marta, additional, and Guerrero‐Molina, Maria Paz, additional

Published
2022
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4. New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene.

Author

Arteche‐López, Ana, Avila‐Fernandez, Almudena, Damian, Alejandra, Soengas‐Gonda, Emma, de la Fuente, Rubén Pérez, Gómez, Patricia Ramos, Merlo, Jesús Gallego, Burgos, Laura Horcajada, Fernández, Carlos Cemillán, Rosales, Jose Miguel Lezana, Martínez, Juan Francisco González, Quesada‐Espinosa, Juan Francisco, Corton, Marta, and Guerrero‐Molina, Maria Paz

Subjects
CEREBELLAR ataxia, HETEROZYGOSITY, RNA analysis, GENE expression, NEUROPATHY, GENES
Abstract

The biallelic pathogenic repeat (AAGGG)400–2000 intronic expansion in the RFC1 gene has been recently described as the cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) and as a major cause of late‐onset ataxia. Since then, many heterozygous carriers have been identified, with an estimated allele frequency of 0.7% to 4% in the healthy population. Here, we describe in two affected CANVAS sisters the presence of the nonsense c.724C > T p.(Arg242*) variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene. Further RNA analysis demonstrated a reduced expression of the p.Arg242* allele in patients confirming an efficient nonsense‐mediated mRNA decay. We also highlight the importance of considering the sequencing of the RFC1 gene for the diagnosis, especially in patients with CANVAS diagnosis carriers of the AAGGG repeat expansion. [ABSTRACT FROM AUTHOR]

Published
2023
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5. De novo small deletion affecting transcription start site of short isoform ofAUTS2gene in a patient with syndromic neurodevelopmental defects

Author

Martinez‐Delgado, Beatriz, primary, Lopez‐Martin, Estrella, additional, Lara‐Herguedas, Julián, additional, Monzon, Sara, additional, Cuesta, Isabel, additional, Juliá, Miguel, additional, Aquino, Virginia, additional, Rodriguez‐Martin, Carlos, additional, Damian, Alejandra, additional, Gonzalo, Irene, additional, Gomez‐Mariano, Gema, additional, Baladron, Beatriz, additional, Cazorla, Rosario, additional, Iglesias, Gema, additional, Roman, Enriqueta, additional, Ros, Purificacion, additional, Tutor, Pablo, additional, Mellor, Susana, additional, Jimenez, Carlos, additional, Cabrejas, Maria Jose, additional, Gonzalez‐Vioque, Emiliano, additional, Alonso, Javier, additional, Bermejo‐Sánchez, Eva, additional, and Posada, Manuel, additional

Published
2020
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7. De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects.

Author

Martinez‐Delgado, Beatriz, Lopez‐Martin, Estrella, Lara‐Herguedas, Julián, Monzon, Sara, Cuesta, Isabel, Juliá, Miguel, Aquino, Virginia, Rodriguez‐Martin, Carlos, Damian, Alejandra, Gonzalo, Irene, Gomez‐Mariano, Gema, Baladron, Beatriz, Cazorla, Rosario, Iglesias, Gema, Roman, Enriqueta, Ros, Purificacion, Tutor, Pablo, Mellor, Susana, Jimenez, Carlos, and Cabrejas, Maria Jose

Abstract

Disruption of the autism susceptibility candidate 2 (AUTS2) gene through genomic rearrangements, copy number variations (CNVs), and intragenic deletions and mutations, has been recurrently involved in syndromic forms of developmental delay and intellectual disability, known as AUTS2 syndrome. The AUTS2 gene plays an important role in regulation of neuronal migration, and when altered, associates with a variable phenotype from severely to mildly affected patients. The more severe phenotypes significantly correlate with the presence of defects affecting the C‐terminus part of the gene. This article reports a new patient with a syndromic neurodevelopmental disorder, who presents a deletion of 30 nucleotides in the exon 9 of the AUTS2 gene. Importantly, this deletion includes the transcription start site for the AUTS2 short transcript isoform, which has an important role in brain development. Gene expression analysis of AUTS2 full‐length and short isoforms revealed that the deletion found in this patient causes a remarkable reduction in the expression level, not only of the short isoform, but also of the full AUTS2 transcripts. This report adds more evidence for the role of mutated AUTS2 short transcripts in the development of a severe phenotype in the AUTS2 syndrome. [ABSTRACT FROM AUTHOR]

Published
2021
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