17 results on '"Arteche-López, Ana"'
Search Results
2. Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review
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Palma-Milla, Carmen, Prat-Planas, Aina, Soengas-Gonda, Emma, Centeno-Pla, Mónica, Sánchez-Pozo, Jaime, Lazaro-Rodriguez, Irene, Quesada-Espinosa, Juan F., Arteche-Lopez, Ana, Olival, Jonathan, Pacio-Miguez, Marta, Palomares-Bralo, María, Santos-Simarro, Fernando, Cancho-Candela, Ramón, Vázquez-López, María, Seidel, Veronica, Martinez-Monseny, Antonio F., Casas-Alba, Didac, Grinberg, Daniel, Balcells, Susanna, Serrano, Mercedes, Rabionet, Raquel, Martin, Miguel A., and Urreizti, Roser
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- 2024
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3. Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients
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Bermejo-Guerrero, Laura, de Fuenmayor Fernández-de la Hoz, Carlos Pablo, González-Quereda, Lidia, Segarra-Casas, Alba, Nedkova, Velina, Gallano, Pia, Martín-Jiménez, Paloma, Hernández-Laín, Aurelio, Olivé, Montse, Arteche-López, Ana, and Domínguez-González, Cristina
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- 2023
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4. Hereditary cerebral small vessel disease: Assessment of a HTRA1 variant using protein stability predictors and 3D modelling
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Hidalgo Mayoral, Irene, Martínez-Salio, Antonio, Llamas-Velasco, Sara, Gómez-Majón, Irene, Arteche-López, Ana, Quesada-Espinosa, Juan Francisco, Palma Milla, Carmen, Lezana Rosales, Jose Miguel, Pérez de la Fuente, Rubén, Juárez Rufián, Alexandra, Sierra Tomillo, Olalla, Sánchez Calvín, Maria Teresa, Gómez Rodríguez, Maria José, Ramos Gómez, Patricia, Villarejo-Galende, Alberto, Díaz-Guzmán, Jaime, Ortega-Casarrubios, Maria Ángeles, Calleja-Castaño, Patricia, and Moreno-García, Marta
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- 2022
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5. Tcf20 deficiency is associated with increased liver fibrogenesis and alterations in mitochondrial metabolism in mice and humans.
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Córdoba‐Jover, Bernat, Ribera, Jordi, Portolés, Irene, Lecue, Elena, Rodriguez‐Vita, Juan, Pérez‐Sisqués, Leticia, Mannara, Francesco, Solsona‐Vilarrasa, Estel, García‐Ruiz, Carmen, Fernández‐Checa, José C., Casals, Gregori, Rodríguez‐Revenga, Laia, Álvarez‐Mora, María Isabel, Arteche‐López, Ana, Díaz de Bustamante, Aranzazu, Calvo, Rosa, Pujol, Anna, Azkargorta, Mikel, Elortza, Felix, and Malagelada, Cristina
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KREBS cycle ,PROTEOMICS ,HEPATIC fibrosis ,CYTOSKELETAL proteins ,MITOCHONDRIA ,SOX2 protein - Abstract
Background & Aims: Transcription co‐activator factor 20 (TCF20) is a regulator of transcription factors involved in extracellular matrix remodelling. In addition, TCF20 genomic variants in humans have been associated with impaired intellectual disability. Therefore, we hypothesized that TCF20 has several functions beyond those described in neurogenesis, including the regulation of fibrogenesis. Methods: Tcf20 knock‐out (Tcf20−/−) and Tcf20 heterozygous mice were generated by homologous recombination. TCF20 gene genotyping and expression was assessed in patients with pathogenic variants in the TCF20 gene. Neural development was investigated by immufluorescense. Mitochondrial metabolic activity was evaluated with the Seahorse analyser. The proteome analysis was carried out by gas chromatography mass‐spectrometry. Results: Characterization of Tcf20−/− newborn mice showed impaired neural development and death after birth. In contrast, heterozygous mice were viable but showed higher CCl4‐induced liver fibrosis and a differential expression of genes involved in extracellular matrix homeostasis compared to wild‐type mice, along with abnormal behavioural patterns compatible with autism‐like phenotypes. Tcf20−/− embryonic livers and mouse embryonic fibroblast (MEF) cells revealed differential expression of structural proteins involved in the mitochondrial oxidative phosphorylation chain, increased rates of mitochondrial metabolic activity and alterations in metabolites of the citric acid cycle. These results parallel to those found in patients with TCF20 pathogenic variants, including alterations of the fibrosis scores (ELF and APRI) and the elevation of succinate concentration in plasma. Conclusions: We demonstrated a new role of Tcf20 in fibrogenesis and mitochondria metabolism in mice and showed the association of TCF20 deficiency with fibrosis and metabolic biomarkers in humans. [ABSTRACT FROM AUTHOR]
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- 2023
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6. Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma.
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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
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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]
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- 2023
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7. Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies.
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Muñoz-García, Mariana I., Guerrero-Molina, María Paz, de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Bermejo-Guerrero, Laura, Arteche-López, Ana, Hernández-Laín, Aurelio, Martín, Miguel A., and Domínguez-González, Cristina
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CONGENITAL myasthenic syndromes ,DELAYED diagnosis ,NEMALINE myopathy ,MELAS syndrome ,MUSCLE diseases ,MUSCLE weakness ,FATIGUE (Physiology) - Abstract
Background: Congenital myasthenic syndromes (CMSs) and primary mitochondrial myopathies (PMMs) can present with ptosis, external ophthalmoplegia, and limb weakness. Methods: Our method involved the description of three cases of CMS that were initially characterized as probable PMM. Results: All patients were male and presented with ptosis and/or external ophthalmoplegia at birth, with proximal muscle weakness and fatigue on physical exertion. After normal repetitive nerve stimulation (RNS) studies performed on facial muscles, a muscle biopsy (at a median age of 9) was performed to rule out congenital myopathies. In all three cases, the biopsy findings (COX-negative fibers or respiratory chain defects) pointed to PMM. They were referred to our neuromuscular unit in adulthood to establish a genetic diagnosis. However, at this time, fatigability was evident in the physical exams and RNS in the spinal accessory nerve showed a decremental response in all cases. Targeted genetic studies revealed pathogenic variants in the MUSK, DOK7, and RAPSN genes. The median diagnostic delay was 29 years. Treatment resulted in functional improvement in all cases. Conclusions: Early identification of CMS is essential as medical treatment can provide clear benefits. Its diagnosis can be challenging due to phenotypic overlap with other debilitating disorders. Thus, a high index of suspicion is necessary to guide the diagnostic strategy. [ABSTRACT FROM AUTHOR]
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- 2023
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8. 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.
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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
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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]
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- 2023
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9. Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families.
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Soengas-Gonda, Emma, Pérez de la Fuente, Rubén, Arteche-López, Ana, Gómez-Cano, María de los Ángeles, Quesada-Espinosa, Juan Francisco, Palma Milla, Carmen, Lezana Rosales, José Miguel, Mayo de Andrés, Sonia, Sánchez-Calvín, María Teresa, Gómez-Rodríguez, María José, Sierra Tomillo, Olalla, Juarez Rufian, Alexandra, Ramos Gomez, Patricia, Herrero-Forte, Clara, Fenollar-Cortés, Maria, Cotarelo-Pérez, Carmen, García Ron, Adrián, Pérez Rodríguez, Olga, Oancea-Ionescu, Raluca, and Moreno-García, Marta
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SHORT stature ,PHENOTYPES ,SYNDROMES ,FAMILIES ,GENETIC variation - Abstract
Alazami syndrome is a rare disorder with an autosomal recessive inheritance caused by pathogenic biallelic variants in the LARP7 gene. Clinically, it is mainly characterized by short stature, intellectual disability, and dysmorphic facial features. However, the phenotype is not yet well-defined because less than 50 cases have been described to date. Here, we report three new patients from two unrelated Spanish families who, in addition to the defined features of Alazami syndrome, also exhibit unique features that broaden the phenotypic spectrum of the syndrome. Moreover, we describe the novel frameshift variant c.690_699delins27 in the LARP7 gene, in which loss of function is a known mechanism of Alazami syndrome. [ABSTRACT FROM AUTHOR]
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- 2023
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10. A novel MLIP truncating variant in an 80-year-old patient with late-onset progressive weakness.
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Bermejo-Guerrero, Laura, Arteche-López, Ana, Hoz, Carlos de Fuenmayor Fernández de la, Hernández-Laín, Aurelio, Martín, Miguel A, Domínguez-González, Cristina, and de Fuenmayor Fernández de la Hoz, Carlos
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- 2022
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11. Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review.
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Gómez-Rodríguez, Maria Jose, Morales-Conejo, Montserrat, Arteche-López, Ana, Sánchez-Calvín, Maria Teresa, Quesada-Espinosa, Juan Francisco, Gómez-Manjón, Irene, Palma-Milla, Carmen, Lezana-Rosales, Jose Miguel, Pérez de la Fuente, Ruben, Martin-Ramos, Maria-Luisa, Fernández-Guijarro, Manuela, Moreno-García, Marta, and Alvarez-Mora, Maria Isabel
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MOSAICISM ,FRAGILE X syndrome ,DELETION mutation ,LITERATURE reviews ,TRINUCLEOTIDE repeats - Abstract
Fragile X syndrome (FXS) is caused by an abnormal expansion of the number of trinucleotide CGG repeats located in the 5′ UTR in the first exon of the FMR1 gene. Size and methylation mosaicisms are commonly observed in FXS patients. Both types of mosaicisms might be associated with less severe phenotypes depending on the number of cells expressing FMRP. Although this dynamic mutation is the main underlying cause of FXS, other mechanisms, including point mutations or deletions, can lead to FXS. Several reports have demonstrated that de novo deletions including the entire or a portion of the FMR1 gene end up with the absence of FMRP and, thus, can lead to the typical clinical features of FXS. However, very little is known about the clinical manifestations associated with FMR1 gene deletions in mosaicism. Here, we report an FXS case caused by an entire hemizygous deletion of the FMR1 gene caused by maternal mosaicism. This manuscript reports this case and a literature review of the clinical manifestations presented by carriers of FMR1 gene deletions in mosaicism. [ABSTRACT FROM AUTHOR]
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- 2022
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12. Expanding the clinical and genetic spectrum of SQSTM1-related disorders in family with personality disorder and frontotemporal dementia.
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Llamas-Velasco, Sara, Arteche-López, Ana, Méndez-Guerrero, Antonio, Puertas Martín, Verónica, Quesada Espinosa, Juan Francisco, Lezana Rosales, Jose Miguel, González-Sánchez, Marta, Blanco-Palmero, Victor Antonio, Palma Milla, Carmen, Herrero-San Martín, Alejandro, Borrego-Hernández, Daniel, García-Redondo, Alberto, Pérez-Martínez, David Andrés, and Villarejo-Galende, Alberto
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PERSONALITY disorders , *FRONTOTEMPORAL dementia , *FRONTOTEMPORAL lobar degeneration , *COGNITION disorders , *CHROMOSOME duplication , *MEDICAL genetics , *PHENOTYPES - Abstract
Objective:SQSTM1-variants associated with frontotemporal lobar degeneration have been described recently. In this study, we investigated a heterozygous in-frame duplication c.436_462dup p. (Pro146_Cys154dup) in the SQSTM1 gene in a family with a new phenotype characterized by a personality disorder and behavioral variant frontotemporal dementia (bvFTD). We review the literature on frontotemporal dementia (FTD) associated with SQSTM1. Methods: The index case and relatives were described, and a genetic study through Whole Exome Sequencing was performed. The literature was reviewed using Medline and Web of Science. Case reports, case series, and cohort studies were included if they provided information on SQSTM1 mutations associated with FTD. Results: Our patient is a 70-year-old man with a personality disorder since youth, familial history of dementia, and personality disorders with a 10-year history of cognitive decline and behavioral disturbances. A diagnosis of probable bvFTD was established, and the in-frame duplication c.436_462dup in the SQSTM1 gene was identified. Segregation analysis in the family confirmed that both affected sons with personality disorder were heterozygous carriers, but not his healthy 65-year-old brother. A total of 14 publications about 57 patients with SQSTM1-related FTD were reviewed, in which the bvFTD subtype was the main phenotype described (66.6%), with a predominance in men (63%) and positive family history in 61.4% of the cases. Conclusions: We describe a heterozygous in-frame duplication c.436_462dup p.(Pro146_Cys154dup) in the SQSTM1 gene, which affects the zinc-finger domain of p62, in a family with a personality disorder and bvFTD, expanding the genetics and clinical phenotype related to SQSTM1. [ABSTRACT FROM AUTHOR]
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- 2021
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13. Early-Onset Dementia Associated with a Heterozygous, Nonsense, and de novo Variant in the MBD5 Gene.
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González-Ortega, Guillermo, Llamas-Velasco, Sara, Arteche-López, Ana, Quesada-Espinosa, Juan Francisco, Puertas-Martín, Verónica, Gómez-Grande, Adolfo, López-Álvarez, Jorge, Saiz Díaz, Rosa Ana, Lezana-Rosales, José Miguel, Villarejo-Galende, Alberto, and González de la Aleja, Jesús
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GENETIC variation ,NEUROBEHAVIORAL disorders ,DEMENTIA ,PERSONALITY disorders ,INTELLECTUAL disabilities ,PROTEIN domains ,EPILEPSY ,GENETIC mutation ,GENETIC carriers ,NEUROPSYCHOLOGICAL tests ,DNA-binding proteins ,PHENOTYPES ,DISEASE complications - Abstract
The haploinsufficiency of the methyl-binding domain protein 5 (MBD5) gene has been identified as the determinant cause of the neuropsychiatric disorders grouped under the name MBD5-neurodevelopment disorders (MAND). MAND includes patients with intellectual disability, behavioral problems, and seizures with a static clinical course. However, a few reports have suggested regression. We describe a non-intellectually disabled female, with previous epilepsy and personality disorder, who developed early-onset dementia. The extensive etiologic study revealed a heterozygous nonsense de novo pathogenic variant in the MBD5 gene. This finding could support including the MBD5 gene in the study of patients with atypical early-onset dementia. [ABSTRACT FROM AUTHOR]
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- 2021
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14. First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.
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Quesada-Espinosa, Juan F., Garzón-Lorenzo, Lucía, Lezana-Rosales, José M., Gómez-Rodríguez, María J., Sánchez-Calvin, María T., Palma-Milla, Carmen, Gómez-Manjón, Irene, Hidalgo-Mayoral, Irene, Pérez de la Fuente, Rubén, Arteche-López, Ana, Álvarez-Mora, María I., Camacho-Salas, Ana, Cruz-Rojo, Jaime, Lázaro-Rodríguez, Irene, Morales-Conejo, Montserrat, Nuñez-Enamorado, Noemí, Bustamante-Aragones, Ana, Simón de las Heras, Rogelio, Gomez-Cano, María A., and Ramos-Gómez, Patricia
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X chromosome ,SYMPTOMS ,GENETIC variation ,PHENOTYPES ,GENE expression ,THYROID diseases - Abstract
Allan-Herndon-Dudley is an X-linked recessive syndrome caused by pathogenic variants in the SLC16A2 gene. Clinical manifestations are a consequence of impaired thyroid metabolism and aberrant transport of thyroid hormones to the brain. Carrier females are generally asymptomatic and may show subtle symptoms of the disease. We describe a female with a complete Allan-Herndon-Dudley phenotype, carrying a de novo 543-kb deletion of the X chromosome. The deletion encompasses exon 1 of the SLC16A2 gene and JPX and FTX genes; it is known that the latter two genes participate in the X-inactivation process upregulating XIST gene expression. Subsequent studies in the patient demonstrated the preferential expression of the X chromosome with the JPX and FTX deletion. [ABSTRACT FROM AUTHOR]
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- 2021
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15. First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection.
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Moreno‐García, Marta, Arteche‐López, Ana Rosa, Álvarez‐Mora, María Isabel, Palma Milla, Carmen, Quesada Espinosa, Juan Francisco, Lezana Rosales, José Miguel, Sánchez Calvín, María Teresa, Gómez Manjón, Irene, Gómez Rodríguez, María José, Mendez‐Guerrero, Antonio, and Villarejo‐Galende, Alberto
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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small vessel disease caused predominantly by pathogenic variants in NOTCH3 gene. Neither germline nor somatic mosaicism has been previously published in NOTCH3 gene. CADASIL is inherited in an autosomal dominant manner; only rare cases have been associated with de novo pathogenic variants. Mosaicism is more common than previously thought because mosaic variants often stay unrevealed. An apparently de novo variant might actually be a consequence of a parental mosaicism undetectable with Sanger sequencing, especially in the case of low grade mosaicism. Parental testing by sensitive tools like deep targeted next‐generation sequencing (NGS) analysis could detect cases of unrevealed medium or low level mosaicism in patients tested by Sanger sequencing. Here, we report the first patient with mosaic NOTCH3 gene pathogenic variant to our knowledge; the allelic fraction in the leucocyte DNA was low (13%); the pathogenic variant was inhered by his two daughters. The patient was diagnosed by deep targeted NGS analysis after studying his two affected daughters. This report highlights the importance of parental testing by sensitive tools like deep targeted NGS analysis. Detection of mosaicism is of great importance for diagnosis and adequate family genetic counseling. [ABSTRACT FROM AUTHOR]
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- 2021
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16. SOD1 mutations in adult‐onset distal spinal muscular atrophy.
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de Fuenmayor‐Fernández de la Hoz, Carlos Pablo, Hernández‐Laín, Aurelio, Olivé, Montse, Arteche López, Ana, Esteban, Jesús, and Domínguez‐González, Cristina
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SPINAL muscular atrophy ,AMYOTROPHIC lateral sclerosis ,BICEPS femoris ,POSTPOLIOMYELITIS syndrome - Published
- 2020
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17. Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test.
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Arteche-López, Ana, Gómez Rodríguez, Maria José, Sánchez Calvin, Maria Teresa, Quesada-Espinosa, Juan Francisco, Lezana Rosales, Jose Miguel, Palma Milla, Carmen, Gómez-Manjón, Irene, Hidalgo Mayoral, Irene, Pérez de la Fuente, Rubén, Díaz de Bustamante, Arancha, Darnaude, María Teresa, Gil-Fournier, Belén, Ramiro León, Soraya, Ramos Gómez, Patricia, Sierra Tomillo, Olalla, Juárez Rufián, Alexandra, Arranz Cano, Maria Isabel, Villares Alonso, Rebeca, Morales-Pérez, Pablo, and Segura-Tudela, Alejandro
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AUTISM spectrum disorders , *FRAGILE X syndrome , *GENETIC disorder diagnosis , *GENETIC testing , *DIAGNOSIS , *EXOMES - Abstract
Autism spectrum disorder (ASD) is a prevalent and extremely heterogeneous neurodevelopmental disorder (NDD) with a strong genetic component. In recent years, the clinical relevance of de novo mutations to the aetiology of ASD has been demonstrated. Current guidelines recommend chromosomal microarray (CMA) and a FMR1 testing as first-tier tests, but there is increasing evidence that support the use of NGS for the diagnosis of NDDs. Specifically in ASD, it has not been extensively evaluated and, thus, we performed and compared the clinical utility of CMA, FMR1 testing, and/or whole exome sequencing (WES) in a cohort of 343 ASD patients. We achieved a global diagnostic rate of 12.8% (44/343), the majority of them being characterised by WES (33/44; 75%) compared to CMA (9/44; 20.4%) or FMR1 testing (2/44; 4.5%). Taking into account the age at which genetic testing was carried out, we identified a causal genetic alteration in 22.5% (37/164) of patients over 5 years old, but only in 3.9% (7/179) of patients under this age. Our data evidence the higher diagnostic power of WES compared to CMA in the study of ASD and support the implementation of WES as a first-tier test for the genetic diagnosis of this disorder, when there is no suspicion of fragile X syndrome. [ABSTRACT FROM AUTHOR]
- Published
- 2021
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