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1. X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

Author

Xiol C, Vidal S, Pascual-Alonso A, Blasco L, Brandi N, Pacheco P, Gerotina E, O'Callaghan M, Pineda M, Armstrong J, Aguirre F, Aleu M, Alonso X, Alsius M, Amoros M, Antinolo G, Aquino L, Arellano C, Arriola G, Arteaga R, Baena N, Barcos M, Belzunces N, Boronat S, Camacho T, Campistol J, del Campo M, Campo A, Cancho R, Candau R, Canos I, Carrascosa M, Carratala-Marco F, Casano J, Castro P, Cobo A, Colomer J, Conejo D, Corrales M, Cortes R, Cruz G, Csanyi G, de Santos M, de Toledo M, Del Campo M, Del Toro M, Domingo R, Duat A, Duque R, Esparza A, Fernandez R, Fons M, Fontalba A, Galan E, Gallano P, Gamundi M, Garcia P, Garcia M, Garcia-Barcina M, Garcia-Catalan M, Garcia-Cazorla A, Garcia-Minaur S, Garcia-Penas J, Garcia-Silva M, Gassio R, Gean E, Gil B, Gokben S, Gonzalez L, Gonzalez V, Gonzalez J, Gonzalez G, Guillen E, Guitart M, Guitet M, Gutierrez J, Gutierrez E, Herranz J, Iglesias G, Karacic I, Lahoz C, Lao J, Lapunzina P, Lautre-Ecenarro M, Lluch M, Lopez L, Lopez-Ariztegui A, Macaya A, Marin R, Marquez C, Martin E, Martinez B, Martinez-Salcedo E, Mas M, Mateo G, Mendez P, Jimenez A, Moreno S, Mulas F, Narbona J, Nascimento A, Nieto M, Nunes T, Nunez N, Obon M, Onsurbe I, Ortez C, Orts E, Martinez F, Parrilla R, Pascual S, Patino A, Perez-Poyato M, Perez-Duenas B, Poo P, Puche E, Ramos F, Raspall M, Roche A, Roldan S, Rosell J, Ruiz C, Ruiz-Falco M, Russi M, Samarra J, San Antonio V, Sanchez I, Sanmartin X, Sans A, Santacana A, Scholl-Burgi S, Serrano N, Serrano M, Martin-Tamayo P, Tendero A, Torrents J, Tortosa D, Trivino E, Troncoso L, Turon E, Vazquez P, Vazquez C, Velazquez R, Ventura C, Verdu A, Vernet A, Vila M, Villar C, Rett Working Grp, Ege Üniversitesi, [Xiol C, Vidal S, Pascual-Alonso A, Blasco L, Pacheco P] Molecular and Genetics Medicine Section, Hospital Sant Joan de Déu, Barcelona, Spain. [Brandi N] Facultat de Medicina, Universitat de Barcelona, Barcelona, Spain, and Vall d'Hebron Barcelona Hospital Campus

Subjects
0301 basic medicine, alelos, Methyl-CpG-Binding Protein 2, Rett, Síndrome de, humanos, lcsh:Medicine, medicine.disease_cause, 0302 clinical medicine, Genes, X-Linked, X Chromosome Inactivation, Genetic Phenomena::Gene Expression Regulation::Epigenesis, Genetic::Dosage Compensation, Genetic::X Chromosome Inactivation [PHENOMENA AND PROCESSES], Genotype, enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::trastornos heredodegenerativos del sistema nervioso::retraso mental ligado al cromosoma X::síndrome de Rett [ENFERMEDADES], lcsh:Science, genes, X chromosome, Genetics, Mutation, Multidisciplinary, Molecular medicine, Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Heredodegenerative Disorders, Nervous System::Mental Retardation, X-Linked::Rett Syndrome [DISEASES], Brain, Phenotype, estudios de asociación genética, fenotipo, Female, Sequence Analysis, encéfalo, inactivación del cromosoma X, análisis de secuencias, congenital, hereditary, and neonatal diseases and abnormalities, fenómenos genéticos::regulación de la expresión génica::epigénesis genética::compensación de dosis genética::inactivación del cromosoma X [FENÓMENOS Y PROCESOS], Rett syndrome, Biology, X-inactivation, Article, MECP2, Cromosoma X, 03 medical and health sciences, medicine, Rett Syndrome, Humans, Genetic Predisposition to Disease, Allele, mutación, Amino Acids, Peptides, and Proteins::Proteins::Amino Acids, Peptides, and Proteins::Proteins::Nuclear Proteins::Chromosomal Proteins, Non-Histone::Amino Acids, Peptides, and Proteins::Proteins::Methyl-CpG-Binding Protein 2 [CHEMICALS AND DRUGS], Alleles, Genetic Association Studies, proteína 2 de unión a metil-CpG, lcsh:R, predisposición genética a la enfermedad, Sequence Analysis, DNA, medicine.disease, 030104 developmental biology, aminoácidos, péptidos y proteínas::proteínas::aminoácidos, péptidos y proteínas::proteínas::aminoácidos, péptidos y proteínas::proteínas::nucleoproteínas::proteínas cromosómicas no histona::proteína 2 de unión a metil-CpG [COMPUESTOS QUÍMICOS Y DROGAS], lcsh:Q, síndrome de Rett, genotipo, Transcripció genètica - Regulació, 030217 neurology & neurosurgery
Abstract

WOS: 000481590200024, PubMed ID: 31427717, Rett syndrome (RTT) is a severe neurological disorder usually caused by mutations in the MECP2 gene. Since the MECP2 gene is located on the X chromosome, X chromosome inactivation (XCI) could play a role in the wide range of phenotypic variation of RTT patients; however, classical methylation-based protocols to evaluate XCI could not determine whether the preferentially inactivated X chromosome carried the mutant or the wild-type allele. Therefore, we developed an allele-specific methylation-based assay to evaluate methylation at the loci of several recurrent MECP2 mutations. We analyzed the XCI patterns in the blood of 174 RTT patients, but we did not find a clear correlation between XCI and the clinical presentation. We also compared XCI in blood and brain cortex samples of two patients and found differences between XCI patterns in these tissues. However, RTT mainly being a neurological disease complicates the establishment of a correlation between the XCI in blood and the clinical presentation of the patients. Furthermore, we analyzed MECP2 transcript levels and found differences from the expected levels according to XCI. Many factors other than XCI could affect the RTT phenotype, which in combination could influence the clinical presentation of RTT patients to a greater extent than slight variations in the XCI pattern., Spanish Ministry of Health (Instituto de Salud Carlos III/FEDER) [PI15/01159]; Crowdfunding program PRECIPITA, from the Spanish Ministry of Health (Fundacion Espanola para la Ciencia y la Tecnologia); Catalan Association for Rett Syndrome; Fondobiorett; Mi Princesa Rett, We thank all patients and their families who contributed to this study. The work was supported by grants from the Spanish Ministry of Health (Instituto de Salud Carlos III/FEDER, PI15/01159); Crowdfunding program PRECIPITA, from the Spanish Ministry of Health (Fundacion Espanola para la Ciencia y la Tecnologia); the Catalan Association for Rett Syndrome; Fondobiorett and Mi Princesa Rett.

Published
2019

2. Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration

Author

Gamundi, M. J., Hernan, I., Maseras, M., Baiget, M., Carmen Ayuso, Borrego, S., Antiñolo, G., Millán, J. M., Valverde, D., and Carballo, M.

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, genetic structures, sense organs, eye diseases
Abstract

Only one mutation in the retinal fascin gene (FSCN2) has so far been associated with autosomal dominant retinitis pigmentosa (adRP) and macular dystrophy (adMD), in a Japanese population. Our study was designed to identify mutations in the FSCN2 gene among Spanish persons with adRP or adMD.

3. Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population

Author

ELENA MILLA, Mañé, B., Duch, S., Hernan, I., Borràs, E., Planas, E., Dias, M. S., Carballo, M., and José Gamundi, M.

Subjects
Male, Heterozygote, genetic structures, DNA Mutational Analysis, Consanguinity, Anterior Eye Segment, Humans, Family, Genetic Predisposition to Disease, Eye Abnormalities, Eye Proteins, Genetic Association Studies, Glycoproteins, Incidence, Eye Diseases, Hereditary, Glaucoma, Health Surveys, eye diseases, Pedigree, body regions, Cytoskeletal Proteins, Spain, Cytochrome P-450 CYP1B1, Mutation, Female, sense organs, Aryl Hydrocarbon Hydroxylases, Research Article
Abstract

Purpose To identify myocilin (MYOC) and cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in a Spanish population with different clinical forms of familial glaucoma or ocular hypertension (OHT). Methods Index patients from 226 families participated in this study. Patients were diagnosed with familial glaucoma or OHT by complete ophthalmologic examination. Screening for MYOC mutations was performed in 207 index patients: 96 with adult-onset primary open-angle glaucoma (POAG), 21 with primary congenital glaucoma (PCG), 18 with juvenile-onset open-angle glaucoma (JOAG), five with Axenfeld-Rieger syndrome (ARS), and 67 with other types of glaucoma. One hundred two of the families (including all those in whom a MYOC mutation was detected) were also screened for CYP1B1 mutations: 45 POAG, 25 PCG, 21 JOAG, four ARS, and seven others. Results We examined 292 individuals (patients and relatives) with a positive family history of glaucoma or OHT. We identified two novel MYOC variants, p.Lys39Arg and p.Glu218Lys, in two families with POAG, and six previously reported MYOC mutations in seven families with POAG (four), JOAG (one), PCG (one), and normotensive glaucoma (one). CYP1B1 mutations were found in 16 index patients with PCG (nine), POAG (three), JOAG (two), and ARS (two). Conclusions The high percentage (9/25=36%) of mutations in CYP1B1 found in non-consanguineous patients with congenital glaucoma mandates genetic testing. However, the percentage of mutations (9/207=4.4%) in MYOC associated with glaucoma is relatively low in our population. The variable phenotype expression of glaucoma, even in families, cannot be explained with a digenic mechanism between MYOC and CYP1B1.

4. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

Author

Perea-Romero, I., Gordo, G., Iancu, I.F., Del Pozo-Valero, M., Almoguera, B., Blanco-Kelly, F., Carreño, E., Jimenez-Rolando, B., Lopez-Rodriguez, R., Lorda-Sanchez, I., Martin-Merida, I., Pérez de Ayala, L., Riveiro-Alvarez, R., Rodriguez-Pinilla, E., Tahsin-Swafiri, S., Trujillo-Tiebas, M.J., Bustamante-Aragones, A., Cardero-Merlo, R., Fernandez-Sanchez, R., Gallego-Merlo, J., Garcia-Vara, I., Gimenez-Pardo, A., Horcajada-Burgos, L., Infantes-Barbero, F., Lantero, E., Lopez-Martinez, M.A., Martinez-Ramas, A., Ondo, L., Rodriguez de Alba, M., Sanchez-Jimeno, C., Velez-Monsalve, C., Villaverde, C., Zurita, O., Aguilera-Garcia, D., Aguirre-Lamban, J., Arteche, A., Cantalapiedra, D., Fernandez-San Jose, P., Galbis-Martinez, L., Garcia-Hoyos, M., Lombardia, C., Lopez-Molina, M.I., Perez-Carro, R., Da Silva, L.R.J., Ramos, C., Sanchez-Alcudia, R., Sanchez-Navarro, I., Tatu, S.D., Vallespin, E., Aller, E., Bernal, S., Gamundi, M.J., Garcia-Garcia, G., Hernan, I., Jaijo, T., Antiñolo, G., Baiget, M., Carballo, M., Millan, J.M., Valverde, D., Allikmets, R., Banfi, S., Cremers, F.P.M., Collin, R.W.J., De Baere, E., Hakonarson, H., Kohl, S., Rivolta, C., Sharon, D., Alonso-Cerezo, M.C., Ballesta-Martinez, M.J., Beltran, S., Benito Lopez, C., Català-Mora, J., Catalli, C., Cotarelo-Perez, C., Fernandez-Burriel, M., Fontalba-Romero, A., Galán-Gómez, E., Garcia-Barcina, M., Garcia-Cruz, L.M., Gener, B., Gil-Fournier, B., Govea, N., Guillen-Navarro, E., Hernando Acero, I., Irigoyen, C., Izquierdo-Álvarez, S., Llano-Rivas, I., López-Ariztegui, M.A., Lopez-Gonzalez, V., Lopez-Grondona, F., Martorell, L., Mendez-Perez, P., Moreno-Igoa, M., Oancea-Ionescu, R., Palau-Martinez, F., Perez de Nanclares, G., Ramos-Fuentes, F.J., Rodriguez-Lopez, R., Rodriguez-Pedreira, M., Rodriguez-Peña, L., Rodriguez-Sanchez, B., Rosell, J., Rosello, N., Saez-Villaverde, R., Santana, A., Valenzuela-Palafoll, I., Villota-Deleu, E., Garcia-Sandoval, B., Minguez, P., Avila-Fernandez, A., Corton, M., Ayuso, C., Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo (España), Centro de Investigación Biomédica en Red Enfermedades Raras (España), Comunidad de Madrid, European Commission, ONCE, Fundación Ramón Areces, Fundación Conchita Rábago de Jiménez Díaz, UAM. Departamento de Medicina, Perea-Romero, I., Gordo, G., Iancu, I. F., Del Pozo-Valero, M., Almoguera, B., Blanco-Kelly, F., Carreno, E., Jimenez-Rolando, B., Lopez-Rodriguez, R., Lorda-Sanchez, I., Martin-Merida, I., Perez de Ayala, L., Riveiro-Alvarez, R., Rodriguez-Pinilla, E., Tahsin-Swafiri, S., Trujillo-Tiebas, M. J., Bustamante-Aragones, A., Cardero-Merlo, R., Fernandez-Sanchez, R., Gallego-Merlo, J., Garcia-Vara, I., Gimenez-Pardo, A., Horcajada-Burgos, L., Infantes-Barbero, F., Lantero, E., Lopez-Martinez, M. A., Martinez-Ramas, A., Ondo, L., Rodriguez de Alba, M., Sanchez-Jimeno, C., Velez-Monsalve, C., Villaverde, C., Zurita, O., Aguilera-Garcia, D., Aguirre-Lamban, J., Arteche, A., Cantalapiedra, D., Fernandez-San Jose, P., Galbis-Martinez, L., Garcia-Hoyos, M., Lombardia, C., Lopez-Molina, M. I., Perez-Carro, R., Da Silva, L. R. J., Ramos, C., Sanchez-Alcudia, R., Sanchez-Navarro, I., Tatu, S. D., Vallespin, E., Aller, E., Bernal, S., Gamundi, M. J., Garcia-Garcia, G., Hernan, I., Jaijo, T., Antinolo, G., Baiget, M., Carballo, M., Millan, J. M., Valverde, D., Allikmets, R., Banfi, S., Cremers, F. P. M., Collin, R. W. J., De Baere, E., Hakonarson, H., Kohl, S., Rivolta, C., Sharon, D., Alonso-Cerezo, M. C., Ballesta-Martinez, M. J., Beltran, S., Benito Lopez, C., Catala-Mora, J., Catalli, C., Cotarelo-Perez, C., Fernandez-Burriel, M., Fontalba-Romero, A., Galan-Gomez, E., Garcia-Barcina, M., Garcia-Cruz, L. M., Gener, B., Gil-Fournier, B., Govea, N., Guillen-Navarro, E., Hernando Acero, I., Irigoyen, C., Izquierdo-Alvarez, S., Llano-Rivas, I., Lopez-Ariztegui, M. A., Lopez-Gonzalez, V., Lopez-Grondona, F., Martorell, L., Mendez-Perez, P., Moreno-Igoa, M., Oancea-Ionescu, R., Palau-Martinez, F., Perez de Nanclares, G., Ramos-Fuentes, F. J., Rodriguez-Lopez, R., Rodriguez-Pedreira, M., Rodriguez-Pena, L., Rodriguez-Sanchez, B., Rosell, J., Rosello, N., Saez-Villaverde, R., Santana, A., Valenzuela-Palafoll, I., Villota-Deleu, E., Garcia-Sandoval, B., Minguez, P., Avila-Fernandez, A., Corton, M., and Ayuso, C.

Subjects
Male, 0301 basic medicine, Peripherins, ABCA4, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Cohort Studies, 0302 clinical medicine, Epidemiology, Genetics research, Prevalence, Genetics, Extracellular Matrix Proteins, Multidisciplinary, medicine.diagnostic_test, biology, Molecular medicine, pedigree, genetic screening, Middle Aged, Phenotype, Myosin VIIa, Cohort, Medicine, Female, Adult, medicine.medical_specialty, MYO7A, Medicina, Science, Article, 03 medical and health sciences, retinitis pigmentosa, Retinal Dystrophies, Retinitis pigmentosa, medicine, Humans, Genetic Testing, Clinical genetics, Eye Proteins, Author Correction, Gene, Aged, Retrospective Studies, Genetic testing, Hereditary eye disease, DNA, medicine.disease, Cross-Sectional Studies, 030104 developmental biology, retina dystrophy, Spain, 030221 ophthalmology & optometry, biology.protein, ATP-Binding Cassette Transporters, mutation
Abstract

ESRETNET Study Group, The ERDC Study Group, The Associated Clinical Study Group., Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address the genetic landscape of IRD in the largest cohort of Spanish patients reported to date. A retrospective hospital-based cross-sectional study was carried out on 6089 IRD affected individuals (from 4403 unrelated families), referred for genetic testing from all the Spanish autonomous communities. Clinical, demographic and familiar data were collected from each patient, including family pedigree, age of appearance of visual symptoms, presence of any systemic findings and geographical origin. Genetic studies were performed to the 3951 families with available DNA using different molecular techniques. Overall, 53.2% (2100/3951) of the studied families were genetically characterized, and 1549 different likely causative variants in 142 genes were identified. The most common phenotype encountered is retinitis pigmentosa (RP) (55.6% of families, 2447/4403). The most recurrently mutated genes were PRPH2, ABCA4 and RS1 in autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL) NON-RP cases, respectively; RHO, USH2A and RPGR in AD, AR and XL for non-syndromic RP; and USH2A and MYO7A in syndromic IRD. Pathogenic variants c.3386G > T (p.Arg1129Leu) in ABCA4 and c.2276G > T (p.Cys759Phe) in USH2A were the most frequent variants identified. Our study provides the general landscape for IRD in Spain, reporting the largest cohort ever presented. Our results have important implications for genetic diagnosis, counselling and new therapeutic strategies to both the Spanish population and other related populations., This work was supported by the Instituto de Salud Carlos III (ISCIII) of the Spanish Ministry of Health (FIS; PI16/00425 and PI19/00321), Centro de Investigación Biomédica en Red Enfermedades Raras (CIBERER, 06/07/0036), IIS-FJD BioBank (PT13/0010/0012), Comunidad de Madrid (CAM, RAREGenomics Project, B2017/BMD-3721), European Regional Development Fund (FEDER), the Organización Nacional de Ciegos Españoles (ONCE), Fundación Ramón Areces, Fundación Conchita Rábago and the University Chair UAM-IIS-FJD of Genomic Medicine. Irene Perea-Romero is supported by a PhD fellowship from the predoctoral Program from ISCIII (FI17/00192). Ionut F. Iancu is supported by a grant from the Comunidad de Madrid (CAM, PEJ-2017-AI/BMD7256). Marta del Pozo-Valero is supported by a PhD grant from the Fundación Conchita Rábago. Berta Almoguera is supported by a Juan Rodes program from ISCIII (JR17/00020). Pablo Minguez is supported by a Miguel Servet program from ISCIII (CP16/00116). Marta Corton is supported by a Miguel Servet program from ISCIII (CPII17/00006).

Published
2021

5. A video demonstration of three-dimensional imaging to assess the circumferential resection margin in locally advanced rectal cancer and recurrent rectal cancer - a video vignette

Author

Matteo Frasson, V. Primo Romeguera, Delfina Fletcher-Sanfeliu, E. García-Granero, L. Brogi, D. Garcia‐Calderón, Gianluca Pellino, Francisco Giner, Álvaro García-Granero, Francesc Xavier González-Argente, B. Flor Lorente, M. Gamundi, Garcia-Granero, A., Pellino, G., Giner, F., Frasson, M., Fletcher-Sanfeliu, D., Primo Romeguera, V., Flor Lorente, B., Gamundi, M., Brogi, L., Garcia-Calderon, D., Gonzalez-Argente, F. X., and Garcia-Granero, E.

Subjects
medicine.medical_specialty, business.industry, Colorectal cancer, Rectal Neoplasms, Gastroenterology, Locally advanced, Rectum, Margins of Excision, medicine.disease, Three dimensional imaging, Imaging, Three-Dimensional, Treatment Outcome, Vignette, Medicine, Humans, Circumferential resection margin, Radiology, Neoplasm Recurrence, Local, business, Recurrent Rectal Cancer, Neoplasm Staging
Published
2020

6. A mathematical 3D-method applied to MRI to evaluate prostatic infiltration in advanced rectal cancer

Author

Matteo Frasson, Blas Flor-Lorente, Francisco Giner, L. Brogi, Álvaro García-Granero, Vicent Primo Romaguera, D. Garcia‐Calderón, E. García-Granero, Delfina Fletcher-Sanfeliu, F X Gonzalez-Argente, Gianluca Pellino, M. Gamundi, Garcia-Granero, A., Pellino, G., Giner, F., Frasson, M., Fletcher-Sanfeliu, D., Romaguera, V. P., Flor-Lorente, B., Gamundi, M., Brogi, L., Garcia-Calderon, D., Gonzalez-Argente, F. X., and Garcia-Granero, E.

Subjects
Male, medicine.medical_specialty, Colorectal cancer, business.industry, Rectal Neoplasms, Gastroenterology, MEDLINE, Prostate, Rectum, Prostatic Neoplasms, medicine.disease, Magnetic Resonance Imaging, Colorectal surgery, medicine, Humans, Surgery, Radiology, business, Infiltration (medical), Abdominal surgery, Neoplasm Staging
Published
2020

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