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Your search keyword '"Trujillo-Tiebas, María José"' showing total 7 results
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7 results on '"Trujillo-Tiebas, María José"'

1. Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies

Author

Rodilla, Cristina, Martín-Merida, Inmaculada, Blanco-Kelly, Fiona, Trujillo-Tiebas, María José, Avila-Fernandez, Almudena, Riveiro-Alvarez, Rosa, del Pozo-Valero, Marta, Perea-Romero, Irene, Swafiri, Saoud Tahsin, Zurita, Olga, Villaverde, Cristina, López, Miguel Ángel, Romero, Raquel, Iancu, Ionut Florin, Núñez-Moreno, Gonzalo, Jiménez-Rolando, Belén, Martin-Gutierrez, María Pilar, Carreño, Ester, Minguez, Pablo, García-Sandoval, Blanca, Ayuso, Carmen, and Corton, Marta

Published
2023
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4. An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases

Author

Romero, Raquel, de la Fuente, Lorena, Del Pozo-Valero, Marta, Riveiro-Álvarez, Rosa, Trujillo-Tiebas, María José, Martín-Mérida, Inmaculada, Ávila-Fernández, Almudena, Iancu, Ionut-Florin, Perea-Romero, Irene, Núñez-Moreno, Gonzalo, Damián, Alejandra, Rodilla, Cristina, Almoguera, Berta, Cortón, Marta, Ayuso, Carmen, and Mínguez, Pablo

Published
2022
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5. PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort

Author

Fernández-Caballero, Lidia, primary, Martín-Merida, Inmaculada, additional, Blanco-Kelly, Fiona, additional, Avila-Fernandez, Almudena, additional, Carreño, Ester, additional, Fernandez-San Jose, Patricia, additional, Irigoyen, Cristina, additional, Jimenez-Rolando, Belen, additional, Lopez-Grondona, Fermina, additional, Mahillo, Ignacio, additional, Martin-Gutierrez, María Pilar, additional, Minguez, Pablo, additional, Perea-Romero, Irene, additional, Del Pozo-Valero, Marta, additional, Riveiro-Alvarez, Rosa, additional, Rodilla, Cristina, additional, Rodriguez-Peña, Lidya, additional, Sánchez-Barbero, Ana Isabel, additional, Swafiri, Saoud T., additional, Trujillo-Tiebas, María José, additional, Zurita, Olga, additional, García-Sandoval, Blanca, additional, Corton, Marta, additional, and Ayuso, Carmen, additional

Published
2024
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6. Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies

Author

Iancu, Ionut-Florin, primary, Perea-Romero, Irene, additional, Núñez-Moreno, Gonzalo, additional, de la Fuente, Lorena, additional, Romero, Raquel, additional, Ávila-Fernandez, Almudena, additional, Trujillo-Tiebas, María José, additional, Riveiro-Álvarez, Rosa, additional, Almoguera, Berta, additional, Martín-Mérida, Inmaculada, additional, Del Pozo-Valero, Marta, additional, Damián-Verde, Alejandra, additional, Cortón, Marta, additional, Ayuso, Carmen, additional, and Minguez, Pablo, additional

Published
2022
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7. Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the NHS Gene in a Patient with Syndromic Cataracts.

Author

Damián, Alejandra, Ionescu, Raluca Oancea, Rodríguez de Alba, Marta, Tamayo, Alejandra, Trujillo-Tiebas, María José, Cotarelo-Pérez, María Carmen, Pérez Rodríguez, Olga, Villaverde, Cristina, de la Fuente, Lorena, Romero, Raquel, Núñez-Moreno, Gonzalo, Mínguez, Pablo, Ayuso, Carmen, and Cortón, Marta

Subjects
GENE mapping, NUCLEOTIDE sequencing, RNA analysis, CHROMOSOME inversions, CATARACT, DIGEORGE syndrome
Abstract

Inversions are structural variants that are generally balanced. However, they could lead to gene disruptions or have positional effects leading to diseases. Mutations in the NHS gene cause Nance-Horan syndrome, an X-linked disorder characterised by congenital cataracts and dental anomalies. Here, we aimed to characterise a balanced pericentric inversion X(p22q27), maternally inherited, in a child with syndromic bilateral cataracts by breakpoint mapping using whole-genome sequencing (WGS). 30× Illumina paired-end WGS was performed in the proband, and breakpoints were confirmed by Sanger sequencing. EdU assays and FISH analysis were used to assess skewed X-inactivation patterns. RNA expression of involved genes in the breakpoint boundaries was evaluated by droplet-digital PCR. We defined the breakpoint position of the inversion at Xp22.13, with a 15 bp deletion, disrupting the unusually large intron 1 of the canonical NHS isoform, and also perturbing topologically-associated domains (TADs). Moreover, a microhomology region of 5 bp was found on both sides. RNA analysis confirmed null and reduced NHS expression in the proband and his unaffected mother, respectively. In conclusion, we report the first chromosomal inversion disrupting NHS, fine-mapped by WGS. Our data expand the clinical spectrum and the pathogenic mechanisms underlying the NHS defects. [ABSTRACT FROM AUTHOR]

Published
2021
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