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1. Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

Author

Angius, Andrea, Baker, Janice A., Bedoukian, Emma, Bhambhani, Vikas, Bodamer, Olaf, O’Brien, Alan, Clayton-Smith, Jill, Crisponi, Laura, Cueto González, Anna María, the DDD study, Devriendt, Koenraad, Garrido, Elena Dominguez, Ehmke, Nadja, van Eerde, Albertien, van den Elzen, Annette P.M., Faivre, Laurence, Fisher, Laura, Flores-Daboub, Josue A., Foster, Alison, Friedman, Jennifer, Gabau, Elisabeth, Galazzi, Elena, García-Miñaúr, Sixto, Garavelli, Livia, Gardeitchik, Thatjana, Gerkes, Erica H., van Gils, Julien, Giltay, Jacques C., Garcia, Aixa Gonzalez, Heimdal, Ketil Riddervold, Horn, Denise, Houge, Gunnar, Hufnagel, Sophia B., Ilencikova, Denisa, Julia, Sophie, Kant, Sarina G., Kinning, Esther, Klee, Eric W., Kois, Chelsea, Kovačević, Maja, Lachmeijer, A.M.A. (Guus), Lanpher, Brendan, Lebrun, Marine, Leon, Eyby, Lichty, Angie Ward, Lin, Ruth, Llano-Rivas, Isabel, Lynch, Sally Ann, Maas, Saskia M., Maitz, Silvia B., McKee, Shane, Melis, Daniela, Merati, Elisabetta, Merla, Giuseppe, Newbury-Ecob, Ruth, Nizon, Mathilde, Park, Soo-Mi, Patterson, Jennifer, Petit, Florence, Peeters, Hilde, Persani, Luca, Persico, Ivana, Pes, Valentina, Pollazzon, Marzia, Potjer, Thomas, Potocki, Lorraine, Pottinger, Carrie, Prasad, Chitra, Prijoles, Eloise J., Ragge, Nicola K., Rake, Jan Peter, van Ravenswaaij-Arts, Conny M.A., Rea, Gillian, Ruivenkamp, Claudia, Rutz, Audrey, Saitta, Sulagna C., Russo, Rossana Sanchez, Santen, Gijs W.E., Schaefer, Elise, Shashi, Vandana, Schultz-Rogers, Laura, Sluga, Andrea, Sotgiu, Stefano, Steichen-Gersdorf, Elisabeth, Sullivan, Jennifer A., Sun, Yu, Suri, Mohnish, Tartaglia, Marco, Tedder, Matt, Terhal, Paulien, Tully, Ian, Verbeek, Nienke, Wenzel, Maren, White, Susan M., Xiao, Bing, Haghshenas, Sadegheh, Bout, Hidde J., Schijns, Josephine M., Levy, Michael A., Kerkhof, Jennifer, Bhai, Pratibha, McConkey, Haley, Jenkins, Zandra A., Williams, Ella M., Halliday, Benjamin J., Huisman, Sylvia A., Lauffer, Peter, de Waard, Vivian, Witteveen, Laura, Banka, Siddharth, Brady, Angela F., Hurst, Anna C.E., Kaiser, Frank J., Lacombe, Didier, Martinez-Monseny, Antonio F., Fergelot, Patricia, Monteiro, Fabíola P., Parenti, Ilaria, Santos-Simarro, Fernando, Simpson, Brittany N., Alders, Mariëlle, Robertson, Stephen P., Sadikovic, Bekim, and Menke, Leonie A.

Published
2024
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4. Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy

Author

Ochoa, Juan Pablo, Sabater-Molina, María, García-Pinilla, José Manuel, Mogensen, Jens, Restrepo-Córdoba, Alejandra, Palomino-Doza, Julián, Villacorta, Eduardo, Martinez-Moreno, Marina, Ramos-Maqueda, Javier, Zorio, Esther, Peña-Peña, Maria L., García-Granja, Pablo E., Rodríguez-Palomares, José F., Cárdenas-Reyes, Ivonne J., de la Torre-Carpente, María M., Bautista-Pavés, Alicia, Akhtar, Mohammed M., Cicerchia, Marcos N., Bilbao-Quesada, Raquel, Mogollón-Jimenez, Maria Victoria, Salazar-Mendiguchía, Joel, Mesa Latorre, José M., Arnaez, Blanca, Olavarri-Miguel, Ivan, Fuentes-Cañamero, María E., Lamounier, Arsonval, Jr, Pérez Ruiz, José María, Climent-Payá, Vicente, Pérez-Sanchez, Inmaculada, Trujillo-Quintero, Juan P., Lopes, Luis R., Repáraz-Andrade, Alfredo, Marín-Iglesias, Rosario, Rodriguez-Vilela, Alejandro, Sandín-Fuentes, María, Garrote, Jose A., Cortel-Fuster, Alejandro, Lopez-Garrido, Miguel, Fontalba-Romero, Ana, Ripoll-Vera, Tomás, Llano-Rivas, Isabel, Fernandez-Fernandez, Xusto, Isidoro-García, María, Garcia-Giustiniani, Diego, Barriales-Villa, Roberto, Ortiz-Genga, Martín, García-Pavía, Pablo, Elliott, Perry M., Gimeno, Juan R., and Monserrat, Lorenzo

Published
2018
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6. Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients

Author

Martinez-Cayuelas, Elena, primary, Blanco-Kelly, Fiona, additional, Lopez-Grondona, Fermina, additional, Swafiri, Saoud Tahsin, additional, Lopez-Rodriguez, Rosario, additional, Losada-Del Pozo, Rebeca, additional, Mahillo-Fernandez, Ignacio, additional, Moreno, Beatriz, additional, Rodrigo-Moreno, Maria, additional, Casas-Alba, Didac, additional, Lopez-Gonzalez, Aitor, additional, García-Miñaúr, Sixto, additional, Ángeles Mori, Maria, additional, Pacio-Minguez, Marta, additional, Rikeros-Orozco, Emi, additional, Santos-Simarro, Fernando, additional, Cruz-Rojo, Jaime, additional, Quesada-Espinosa, Juan Francisco, additional, Sanchez-Calvin, Maria Teresa, additional, Sanchez-del Pozo, Jaime, additional, Bernado Fonz, Raquel, additional, Isidoro-Garcia, Maria, additional, Ruiz-Ayucar, Irene, additional, Alvarez-Mora, Maria Isabel, additional, Blanco-Lago, Raquel, additional, De Azua, Begoña, additional, Eiris, Jesus, additional, Garcia-Peñas, Juan Jose, additional, Gil-Fournier, Belen, additional, Gomez-Lado, Carmen, additional, Irazabal, Nadia, additional, Lopez-Gonzalez, Vanessa, additional, Madrigal, Irene, additional, Malaga, Ignacio, additional, Martinez-Menendez, Beatriz, additional, Ramiro-Leon, Soraya, additional, Garcia-Hoyos, Maria, additional, Prieto-Matos, Pablo, additional, Lopez-Pison, Javier, additional, Aguilera-Albesa, Sergio, additional, Alvarez, Sara, additional, Fernández-Jaén, Alberto, additional, Llano-Rivas, Isabel, additional, Gener-Querol, Blanca, additional, Ayuso, Carmen, additional, Arteche-Lopez, Ana, additional, Palomares-Bralo, Maria, additional, Cueto-González, Anna, additional, Valenzuela, Irene, additional, Martinez-Monseny, Antonio, additional, Lorda-Sanchez, Isabel, additional, and Almoguera, Berta, additional

Published
2022
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7. Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

Author

Kayumi, Sayaka, primary, Pérez-Jurado, Luis A., additional, Palomares, María, additional, Rangu, Sneha, additional, Sheppard, Sarah E., additional, Chung, Wendy K., additional, Kruer, Michael C., additional, Kharbanda, Mira, additional, Amor, David J., additional, McGillivray, George, additional, Cohen, Julie S., additional, García-Miñaúr, Sixto, additional, van Eyk, Clare L., additional, Harper, Kelly, additional, Jolly, Lachlan A., additional, Webber, Dani L., additional, Barnett, Christopher P., additional, Santos-Simarro, Fernando, additional, Pacio-Míguez, Marta, additional, Pozo, Angela del, additional, Bakhtiari, Somayeh, additional, Deardorff, Matthew, additional, Dubbs, Holly A., additional, Izumi, Kosuke, additional, Grand, Katheryn, additional, Gray, Christopher, additional, Mark, Paul R., additional, Bhoj, Elizabeth J., additional, Li, Dong, additional, Ortiz-Gonzalez, Xilma R., additional, Keena, Beth, additional, Zackai, Elaine H., additional, Goldberg, Ethan M., additional, Perez de Nanclares, Guiomar, additional, Pereda, Arrate, additional, Llano-Rivas, Isabel, additional, Arroyo, Ignacio, additional, Fernández-Cuesta, María Ángeles, additional, Thauvin-Robinet, Christel, additional, Faivre, Laurence, additional, Garde, Aurore, additional, Mazel, Benoit, additional, Bruel, Ange-Line, additional, Tress, Michael L., additional, Brilstra, Eva, additional, Fine, Amena Smith, additional, Crompton, Kylie E., additional, Stegmann, Alexander P.A., additional, Sinnema, Margje, additional, Stevens, Servi C.J., additional, Nicolai, Joost, additional, Lesca, Gaetan, additional, Lion-François, Laurence, additional, Haye, Damien, additional, Chatron, Nicolas, additional, Piton, Amelie, additional, Nizon, Mathilde, additional, Cogne, Benjamin, additional, Srivastava, Siddharth, additional, Bassetti, Jennifer, additional, Muss, Candace, additional, Gripp, Karen W., additional, Procopio, Rebecca A., additional, Millan, Francisca, additional, Morrow, Michelle M., additional, Assaf, Melissa, additional, Moreno-De-Luca, Andres, additional, Joss, Shelagh, additional, Hamilton, Mark J., additional, Bertoli, Marta, additional, Foulds, Nicola, additional, McKee, Shane, additional, MacLennan, Alastair H., additional, Gecz, Jozef, additional, and Corbett, Mark A., additional

Published
2022
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8. Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

Author

Genetica Klinische Genetica, Brain, Kayumi, Sayaka, Pérez-Jurado, Luis A, Palomares, María, Rangu, Sneha, Sheppard, Sarah E, Chung, Wendy K, Kruer, Michael C, Kharbanda, Mira, Amor, David J, McGillivray, George, Cohen, Julie S, García-Miñaúr, Sixto, van Eyk, Clare L, Harper, Kelly, Jolly, Lachlan A, Webber, Dani L, Barnett, Christopher P, Santos-Simarro, Fernando, Pacio-Míguez, Marta, Pozo, Angela Del, Bakhtiari, Somayeh, Deardorff, Matthew, Dubbs, Holly A, Izumi, Kosuke, Grand, Katheryn, Gray, Christopher, Mark, Paul R, Bhoj, Elizabeth J, Li, Dong, Ortiz-Gonzalez, Xilma R, Keena, Beth, Zackai, Elaine H, Goldberg, Ethan M, Perez de Nanclares, Guiomar, Pereda, Arrate, Llano-Rivas, Isabel, Arroyo, Ignacio, Fernández-Cuesta, María Ángeles, Thauvin-Robinet, Christel, Faivre, Laurence, Garde, Aurore, Mazel, Benoit, Bruel, Ange-Line, Tress, Michael L, Brilstra, Eva, Fine, Amena Smith, Crompton, Kylie E, Stegmann, Alexander P A, Sinnema, Margje, Stevens, Servi C J, Nicolai, Joost, Lesca, Gaetan, Lion-François, Laurence, Haye, Damien, Chatron, Nicolas, Piton, Amelie, Nizon, Mathilde, Cogne, Benjamin, Srivastava, Siddharth, Bassetti, Jennifer, Muss, Candace, Gripp, Karen W, Procopio, Rebecca A, Millan, Francisca, Morrow, Michelle M, Assaf, Melissa, Moreno-De-Luca, Andres, Joss, Shelagh, Hamilton, Mark J, Bertoli, Marta, Foulds, Nicola, McKee, Shane, MacLennan, Alastair H, Gecz, Jozef, Corbett, Mark A, Genetica Klinische Genetica, Brain, Kayumi, Sayaka, Pérez-Jurado, Luis A, Palomares, María, Rangu, Sneha, Sheppard, Sarah E, Chung, Wendy K, Kruer, Michael C, Kharbanda, Mira, Amor, David J, McGillivray, George, Cohen, Julie S, García-Miñaúr, Sixto, van Eyk, Clare L, Harper, Kelly, Jolly, Lachlan A, Webber, Dani L, Barnett, Christopher P, Santos-Simarro, Fernando, Pacio-Míguez, Marta, Pozo, Angela Del, Bakhtiari, Somayeh, Deardorff, Matthew, Dubbs, Holly A, Izumi, Kosuke, Grand, Katheryn, Gray, Christopher, Mark, Paul R, Bhoj, Elizabeth J, Li, Dong, Ortiz-Gonzalez, Xilma R, Keena, Beth, Zackai, Elaine H, Goldberg, Ethan M, Perez de Nanclares, Guiomar, Pereda, Arrate, Llano-Rivas, Isabel, Arroyo, Ignacio, Fernández-Cuesta, María Ángeles, Thauvin-Robinet, Christel, Faivre, Laurence, Garde, Aurore, Mazel, Benoit, Bruel, Ange-Line, Tress, Michael L, Brilstra, Eva, Fine, Amena Smith, Crompton, Kylie E, Stegmann, Alexander P A, Sinnema, Margje, Stevens, Servi C J, Nicolai, Joost, Lesca, Gaetan, Lion-François, Laurence, Haye, Damien, Chatron, Nicolas, Piton, Amelie, Nizon, Mathilde, Cogne, Benjamin, Srivastava, Siddharth, Bassetti, Jennifer, Muss, Candace, Gripp, Karen W, Procopio, Rebecca A, Millan, Francisca, Morrow, Michelle M, Assaf, Melissa, Moreno-De-Luca, Andres, Joss, Shelagh, Hamilton, Mark J, Bertoli, Marta, Foulds, Nicola, McKee, Shane, MacLennan, Alastair H, Gecz, Jozef, and Corbett, Mark A

Published
2022

13. High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Author

Rojnueangnit, Kitiwan, Xie, Jing, Gomes, Alicia, Sharp, Angela, Callens, Tom, Chen, Yunjia, Liu, Ying, Cochran, Meagan, Abbott, Mary-Alice, Atkin, Joan, Babovic-Vuksanovic, Dusica, Barnett, Christopher P., Crenshaw, Melissa, Bartholomew, Dennis W., Basel, Lina, Bellus, Gary, Ben-Shachar, Shay, Bialer, Martin G., Bick, David, Blumberg, Bruce, Cortes, Fanny, David, Karen L., Destree, Anne, Duat-Rodriguez, Anna, Earl, Dawn, Escobar, Luis, Eswara, Marthanda, Ezquieta, Begona, Frayling, Ian M., Frydman, Moshe, Gardner, Kathy, Gripp, Karen W., Hernández-Chico, Concepcion, Heyrman, Kurt, Ibrahim, Jennifer, Janssens, Sandra, Keena, Beth A, Llano-Rivas, Isabel, Leppig, Kathy, McDonald, Marie, Misra, Vinod K., Mulbury, Jennifer, Narayanan, Vinodh, Orenstein, Naama, Galvin-Parton, Patricia, Pedro, Helio, Pivnick, Eniko K., Powell, Cynthia M., Randolph, Linda, Raskin, Salmo, Rosell, Jordi, Rubin, Karol, Seashore, Margretta, Schaaf, Christian P., Scheuerle, Angela, Schultz, Meredith, Schorry, Elizabeth, Schnur, Rhonda, Siqveland, Elizabeth, Tkachuk, Amanda, Tonsgard, James, Upadhyaya, Meena, Verma, Ishwar C., Wallace, Stephanie, Williams, Charles, Zackai, Elaine, Zonana, Jonathan, Lazaro, Conxi, Claes, Kathleen, Korf, Bruce, Martin, Yolanda, Legius, Eric, and Messiaen, Ludwine

Published
2015
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15. Reiterative Infusions of MSCs Improve Pediatric Osteogenesis Imperfecta Eliciting a Pro-Osteogenic Paracrine Response: TERCELOI Clinical Trial

Author

Pediatría, Pediatria, Infante, Arantza, Gener, Blanca, Vázquez Ronco, Miguel, Olivares, Nerea, Arrieta, Arantza, Grau, Gema, Llano Rivas, Isabel, Madero, Luis, Bueno, Ana María, Sagastizabal, Belén, Gerovska, Daniela, Araúzo Bravo, Marcos J., Astigarraga Aguirre, María Iciar, Rodríguez López, Clara Isabel, Pediatría, Pediatria, Infante, Arantza, Gener, Blanca, Vázquez Ronco, Miguel, Olivares, Nerea, Arrieta, Arantza, Grau, Gema, Llano Rivas, Isabel, Madero, Luis, Bueno, Ana María, Sagastizabal, Belén, Gerovska, Daniela, Araúzo Bravo, Marcos J., Astigarraga Aguirre, María Iciar, and Rodríguez López, Clara Isabel

Abstract

Background Osteogenesis imperfecta (OI) is a rare genetic disease characterized by bone fragility, with a wide range in the severity of clinical manifestations. The majority of cases are due to mutations in the COL1A1 or COL1A2 genes, which encode type I collagen. Mesenchymal stem cells (MSCs), as the progenitors of the osteoblasts, the main type I collagen secreting cell type in the bone, have been proposed and tested as an innovative therapy for OI with promising but transient outcomes. Methods To overcome the short-term effect of MSCs therapy, we performed a phase I clinical trial based on reiterative infusions of histocompatible MSCs, administered in a 2.5-year period, in two pediatric patients affected by severe and moderate OI. The aim of this study was to assess the safety and effectiveness of this cell therapy in nonimmunosuppressed OI patients. The host response to MSCs was studied by analyzing the sera from OI patients, collected before, during, and after the cell therapy. Results We first demonstrated that the sequential administration of MSCs was safe and improved the bone parameters and quality of life of OI patients along the cell treatment plus 2-year follow-up period. Moreover, the study of the mechanism of action indicated that MSCs therapy elicited a pro-osteogenic paracrine response in patients, especially noticeable in the patient affected by severe OI. Conclusions Our results demonstrate the feasibility and potential of reiterative MSCs infusion for two pediatric OI and highlight the paracrine response shown by patients as a consequence of MSCs treatment.

Published
2021

16. Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients

Author

Martinez-Cayuelas, Elena, Blanco-Kelly, Fiona, Lopez-Grondona, Fermina, Swafiri, Saoud Tahsin, Lopez-Rodriguez, Rosario, Losada-Del Pozo, Rebeca, Mahillo-Fernandez, Ignacio, Moreno, Beatriz, Rodrigo-Moreno, Maria, Casas-Alba, Didac, Lopez-Gonzalez, Aitor, García-Miñaúr, Sixto, Ángeles Mori, Maria, Pacio-Minguez, Marta, Rikeros-Orozco, Emi, Santos-Simarro, Fernando, Cruz-Rojo, Jaime, Quesada-Espinosa, Juan Francisco, Sanchez-Calvin, Maria Teresa, Sanchez-del Pozo, Jaime, Bernado Fonz, Raquel, Isidoro-Garcia, Maria, Ruiz-Ayucar, Irene, Alvarez-Mora, Maria Isabel, Blanco-Lago, Raquel, De Azua, Begoña, Eiris, Jesus, Garcia-Peñas, Juan Jose, Gil-Fournier, Belen, Gomez-Lado, Carmen, Irazabal, Nadia, Lopez-Gonzalez, Vanessa, Madrigal, Irene, Malaga, Ignacio, Martinez-Menendez, Beatriz, Ramiro-Leon, Soraya, Garcia-Hoyos, Maria, Prieto-Matos, Pablo, Lopez-Pison, Javier, Aguilera-Albesa, Sergio, Alvarez, Sara, Fernández-Jaén, Alberto, Llano-Rivas, Isabel, Gener-Querol, Blanca, Ayuso, Carmen, Arteche-Lopez, Ana, Palomares-Bralo, Maria, Cueto-González, Anna, Valenzuela, Irene, Martinez-Monseny, Antonio, Lorda-Sanchez, Isabel, and Almoguera, Berta

Abstract

BackgroundKBG syndrome is a highly variable neurodevelopmental disorder and clinical diagnostic criteria have changed as new patients have been reported. Both loss-of-function sequence variants and large deletions (copy number variations, CNVs) involving ANKRD11cause KBG syndrome, but no genotype–phenotype correlation has been reported.Methods67 patients with KBG syndrome were assessed using a custom phenotypical questionnaire. Manifestations present in >50% of the patients and a ‘phenotypical score’ were used to perform a genotype–phenotype correlation in 340 patients from our cohort and the literature.ResultsNeurodevelopmental delay, macrodontia, triangular face, characteristic ears, nose and eyebrows were the most prevalentf (eatures. 82.8% of the patients had at least one of seven main comorbidities: hearing loss and/or otitis media, visual problems, cryptorchidism, cardiopathy, feeding difficulties and/or seizures. Associations found included a higher phenotypical score in patients with sequence variants compared with CNVs and a higher frequency of triangular face (71.1% vs 42.5% in CNVs). Short stature was more frequent in patients with exon 9 variants (62.5% inside vs 27.8% outside exon 9), and the prevalence of intellectual disability/attention deficit hyperactivity disorder/autism spectrum disorder was lower in patients with the c.1903_1907del variant (70.4% vs 89.4% other variants). Presence of macrodontia and comorbidities were associated with larger deletion sizes and hand anomalies with smaller deletions.ConclusionWe present a detailed phenotypical description of KBG syndrome in the largest series reported to date of 67 patients, provide evidence of a genotype–phenotype correlation between some KBG features and specific ANKRD11variants in 340 patients, and propose updated clinical diagnostic criteria based on our findings.

Published
2023
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17. Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players

Author

Domingo-Gallego, Andrea, primary, Pybus, Marc, additional, Bullich, Gemma, additional, Furlano, Mónica, additional, Ejarque-Vila, Laia, additional, Lorente-Grandoso, Laura, additional, Ruiz, Patricia, additional, Fraga, Gloria, additional, López González, Mercedes, additional, Piñero-Fernández, Juan Alberto, additional, Rodríguez-Peña, Lidia, additional, Llano-Rivas, Isabel, additional, Sáez, Raquel, additional, Bujons-Tur, Anna, additional, Ariceta, Gema, additional, Guirado, Lluis, additional, Torra, Roser, additional, and Ars, Elisabet, additional

Published
2021
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19. Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.

Author

Domingo-Gallego, Andrea, Pybus, Marc, Bullich, Gemma, Furlano, Mónica, Ejarque-Vila, Laia, Lorente-Grandoso, Laura, Ruiz, Patricia, Fraga, Gloria, González, Mercedes López, Piñero-Fernández, Juan Alberto, Rodríguez-Peña, Lidia, Llano-Rivas, Isabel, Sáez, Raquel, Bujons-Tur, Anna, Ariceta, Gema, Guirado, Lluis, Torra, Roser, and Ars, Elisabet

Subjects
GENETIC testing, CYSTIC kidney disease, GENETIC counseling, GENETIC disorder diagnosis, CHRONIC kidney failure
Abstract

Background Inherited kidney diseases are one of the leading causes of chronic kidney disease (CKD) that manifests before the age of 30 years. Precise clinical diagnosis of early-onset CKD is complicated due to the high phenotypic overlap, but genetic testing is a powerful diagnostic tool. We aimed to develop a genetic testing strategy to maximize the diagnostic yield for patients presenting with early-onset CKD and to determine the prevalence of the main causative genes. Methods We performed genetic testing of 460 patients with early-onset CKD of suspected monogenic cause using next-generation sequencing of a custom-designed kidney disease gene panel in addition to targeted screening for c.428dupC MUC1. Results We achieved a global diagnostic yield of 65% (300/460), which varied depending on the clinical diagnostic group: 77% in cystic kidney diseases, 76% in tubulopathies, 67% in autosomal dominant tubulointerstitial kidney disease, 61% in glomerulopathies and 38% in congenital anomalies of the kidney and urinary tract. Among the 300 genetically diagnosed patients, the clinical diagnosis was confirmed in 77%, a specific diagnosis within a clinical diagnostic group was identified in 15%, and 7% of cases were reclassified. Of the 64 causative genes identified in our cohort, 7 (COL4A3 , COL4A4 , COL4A5 , HNF1B , PKD1 , PKD2 and PKHD1) accounted for 66% (198/300) of the genetically diagnosed patients. Conclusions Two-thirds of patients with early-onset CKD in this cohort had a genetic cause. Just seven genes were responsible for the majority of diagnoses. Establishing a genetic diagnosis is crucial to define the precise aetiology of CKD, which allows accurate genetic counselling and improved patient management. [ABSTRACT FROM AUTHOR]

Published
2022
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22. Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants

Author

Sentchordi-Montané, Lucía, primary, Benito-Sanz, Sara, additional, Aza-Carmona, Miriam, additional, Pereda, Arrate, additional, Parrón-Pajares, Manuel, additional, de la Torre, Carolina, additional, Vasques, Gabriela A, additional, Funari, Mariana F A, additional, Travessa, André M, additional, Dias, Patrícia, additional, Suarez-Ortega, Larisa, additional, González-Buitrago, Jesús, additional, Portillo-Najera, Nancy Elizabeth, additional, Llano-Rivas, Isabel, additional, Martín-Frías, María, additional, Ramírez-Fernández, Joaquín, additional, Sánchez del Pozo, Jaime, additional, Garzón-Lorenzo, Lucía, additional, Martos-Moreno, Gabriel A, additional, Alfaro-Iznaola, Cristina, additional, Mulero-Collantes, Inés, additional, Ruiz-Ocaña, Pablo, additional, Casano-Sancho, Paula, additional, Portela, Ana, additional, Ruiz-Pérez, Lorea, additional, del Pozo, Angela, additional, Vallespín, Elena, additional, Solís, Mario, additional, Lerario, Antônio M, additional, González-Casado, Isabel, additional, Ros-Pérez, Purificación, additional, Pérez de Nanclares, Guiomar, additional, Jorge, Alexander A L, additional, and Heath, Karen E, additional

Published
2020
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23. Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

Author

Salpietro, Vincenzo, Malintan, Nancy T, Llano-Rivas, Isabel, Spaeth, Christine G, Efthymiou, Stephanie, Striano, Pasquale, Vandrovcova, Jana, Cutrupi, Maria C, Chimenz, Roberto, David, Emanuele, Di Rosa, Gabriella, Marce-Grau, Anna, Raspall-Chaure, Miquel, Martin-Hernandez, Elena, Zara, Federico, Minetti, Carlo, Bello, Oscar D, De Zorzi, Rita, Fortuna, Sara, Dauber, Andrew, Alkhawaja, Mariam, Sultan, Tipu, Mankad, Kshitij, Vitobello, Antonio, Thomas, Quentin, Mau-Them, Frederic Tran, Faivre, Laurence, Martinez-Azorin, Francisco, Prada, Carlos E, Macaya, Alfons, Kullmann, Dimitri M, Rothman, James E, Krishnakumar, Shyam S, Houlden, Henry, Kriouile, Yamna, El Khorassani, Mohamed, Aguennouz, Mhammed, Karashova, Blagovesta, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Van Maldergem, Lionel, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez-Dueñas, Belen, Pironti, Erica, Goraya, Jatinder S, Kirmani, Salman, Ibrahim, Shahnaz, Jan, Farida, Mine, Jun, Banu, Selina, Veggiotti, Pierangelo, Ferrari, Michel D, Verrotti, Alberto, Marseglia, Gian Luigi, Savasta, Salvatore, Garavaglia, Barbara, Scuderi, Carmela, Borgione, Eugenia, Dipasquale, Valeria, Cutrupi, Maria Concetta, Portaro, Simona, Sanchez, Benigno Monteagudo, Pineda-Marfa’, Mercedes, Munell, Francina, Boles, Richard, Heimer, Gali, Papacostas, Savvas, Manole, Andreea, Malintan, Nancy, Zanetti, Maria Natalia, Hanna, Michael G, Houlden, Henry., Salpietro, V., Malintan, N. T., Llano-Rivas, I., Spaeth, C. G., Efthymiou, S., Striano, P., Vandrovcova, J., Cutrupi, M. C., Chimenz, R., David, E., Di Rosa, G., Marce-Grau, A., Raspall-Chaure, M., Martin-Hernandez, E., Zara, F., Minetti, C., Kriouile, Y., El Khorassani, M., Aguennouz, M., Karashova, B., Avdjieva, D., Kathom, H., Tincheva, R., Van Maldergem, L., Nachbauer, W., Boesch, S., Arning, L., Timmann, D., Cormand, B., Perez-Duenas, B., Pironti, E., Goraya, J. S., Sultan, T., Kirmani, S., Ibrahim, S., Jan, F., Mine, J., Banu, S., Veggiotti, P., Ferrari, M. D., Verrotti, A., Marseglia, G. L., Savasta, S., Garavaglia, B., Scuderi, C., Borgione, E., Dipasquale, V., Portaro, S., Sanchez, B. M., Pineda-Marfa, M., Munell, F., Macaya, A., Boles, R., Heimer, G., Papacostas, S., Manole, A., Malintan, N., Zanetti, M. N., Hanna, M. G., Rothman, J. E., Kullmann, D. M., Houlden, H., Bello, O. D., De Zorzi, R., Fortuna, S., Dauber, A., Alkhawaja, M., Mankad, K., Vitobello, A., Thomas, Q., Mau-Them, F. T., Faivre, L., Martinez-Azorin, F., Prada, C. E., and Krishnakumar, S. S.

Subjects
Male, Heterozygote, Adolescent, Vesicle-Associated Membrane Protein 2, neuronal exocytosi, synaptopathy, autism, synaptobrevin, Membrane Fusion, Exocytosis, R-SNARE Proteins, Protein Domains, Report, Intellectual Disability, Genetics, Humans, Autistic Disorder, Child, Genetics (clinical), Neurons, Neurotransmitter Agents, neurodevelopmental disorders, vesicle fusion, Brain, epilepsy, movement disorders, neuronal exocytosis, SNARE, VAMP2, Lipids, Magnetic Resonance Imaging, neurodevelopmental disorder, autism, epilepsy, movement disorders, neurodevelopmental disorders, neuronal exocytosis, SNARE, synaptobrevin, synaptopathy, VAMP2, vesicle fusion, Genetics, Genetics (clinical), Phenotype, Child, Preschool, Mutation, Synapses, Muscle Hypotonia, Female, sense organs, movement disorder
Abstract

VAMP2 encodes the vesicular SNARE protein VAMP2 (also called synaptobrevin-2). Together with its partners syntaxin-1A and synaptosomal-associated protein 25 (SNAP25), VAMP2 mediates fusion of synaptic vesicles to release neurotransmitters. VAMP2 is essential for vesicular exocytosis and activity-dependent neurotransmitter release. Here, we report five heterozygous de novo mutations in VAMP2 in unrelated individuals presenting with a neurodevelopmental disorder characterized by axial hypotonia (which had been present since birth), intellectual disability, and autistic features. In total, we identified two single-amino-acid deletions and three non-synonymous variants affecting conserved residues within the C terminus of the VAMP2 SNARE motif. Affected individuals carrying de novo non-synonymous variants involving the C-terminal region presented a more severe phenotype with additional neurological features, including central visual impairment, hyperkinetic movement disorder, and epilepsy or electroencephalography abnormalities. Reconstituted fusion involving a lipid-mixing assay indicated impairment in vesicle fusion as one of the possible associated disease mechanisms. The genetic synaptopathy caused by VAMP2 de novo mutations highlights the key roles of this gene in human brain development and function.

Published
2019

24. P87-F Severe congenital myopathy related to a novel mutation in the titin gene. A case report

Author

Sánchez-Horvath, Miriam, primary, Marcelino-Salas, Keyla, additional, Llano-Rivas, Isabel, additional, Martínez González, María Jesús, additional, García-Ribes, Ainhoa, additional, Fernández-Bedoya, Ana Isabel, additional, Martínez-Zuluaga, Ana, additional, San Martín, Imanol Lambarri, additional, and Yurrebaso-Santamaría, Izaskun, additional

Published
2019
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25. Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

Author

Salpietro, Vincenzo, primary, Malintan, Nancy T., additional, Llano-Rivas, Isabel, additional, Spaeth, Christine G., additional, Efthymiou, Stephanie, additional, Striano, Pasquale, additional, Vandrovcova, Jana, additional, Cutrupi, Maria C., additional, Chimenz, Roberto, additional, David, Emanuele, additional, Di Rosa, Gabriella, additional, Marce-Grau, Anna, additional, Raspall-Chaure, Miquel, additional, Martin-Hernandez, Elena, additional, Zara, Federico, additional, Minetti, Carlo, additional, Bello, Oscar D., additional, De Zorzi, Rita, additional, Fortuna, Sara, additional, Dauber, Andrew, additional, Alkhawaja, Mariam, additional, Sultan, Tipu, additional, Mankad, Kshitij, additional, Vitobello, Antonio, additional, Thomas, Quentin, additional, Mau-Them, Frederic Tran, additional, Faivre, Laurence, additional, Martinez-Azorin, Francisco, additional, Prada, Carlos E., additional, Macaya, Alfons, additional, Kullmann, Dimitri M., additional, Rothman, James E., additional, Krishnakumar, Shyam S., additional, Houlden, Henry, additional, Salpietro, Vincenzo, additional, Kriouile, Yamna, additional, El Khorassani, Mohamed, additional, Aguennouz, Mhammed, additional, Karashova, Blagovesta, additional, Avdjieva, Daniela, additional, Kathom, Hadil, additional, Tincheva, Radka, additional, Van Maldergem, Lionel, additional, Nachbauer, Wolfgang, additional, Boesch, Sylvia, additional, Arning, Larissa, additional, Timmann, Dagmar, additional, Cormand, Bru, additional, Pérez-Dueñas, Belen, additional, Pironti, Erica, additional, Goraya, Jatinder S., additional, Kirmani, Salman, additional, Ibrahim, Shahnaz, additional, Jan, Farida, additional, Mine, Jun, additional, Banu, Selina, additional, Veggiotti, Pierangelo, additional, Ferrari, Michel D., additional, Verrotti, Alberto, additional, Marseglia, Gian Luigi, additional, Savasta, Salvatore, additional, Garavaglia, Barbara, additional, Scuderi, Carmela, additional, Borgione, Eugenia, additional, Dipasquale, Valeria, additional, Cutrupi, Maria Concetta, additional, Portaro, Simona, additional, Sanchez, Benigno Monteagudo, additional, Pineda-Marfa’, Mercedes, additional, Munell, Francina, additional, Boles, Richard, additional, Heimer, Gali, additional, Papacostas, Savvas, additional, Manole, Andreea, additional, Malintan, Nancy, additional, Zanetti, Maria Natalia, additional, and Hanna, Michael G., additional

Published
2019
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26. Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report

Author

Farmacia y ciencias de los alimentos, Farmazia eta elikagaien zientziak, Vado Ranedo, Yerai, Errea-Dorronsoro, Javier, Llano-Rivas, Isabel, Gorria, Nerea, Pereda, Arrate, Gener, Blanca, Garcia-Naveda, Laura, Perez de Nanclares, Guiomar, Farmacia y ciencias de los alimentos, Farmazia eta elikagaien zientziak, Vado Ranedo, Yerai, Errea-Dorronsoro, Javier, Llano-Rivas, Isabel, Gorria, Nerea, Pereda, Arrate, Gener, Blanca, Garcia-Naveda, Laura, and Perez de Nanclares, Guiomar

Abstract

BackgroundSilver-Russell Syndrome (SRS) is a rare growth-related genetic disorder mainly characterized by prenatal and postnatal growth failure. Although molecular causes are not clear in all cases, the most common mechanisms involved in SRS are loss of methylation on chromosome 11p15 (approximate to 50%) and maternal uniparental disomy for chromosome 7 (upd(7)mat) (approximate to 10%).Case presentationWe present a girl with clinical suspicion of SRS (intrauterine and postnatal growth retardation, prominent forehead, triangular face, mild psychomotor delay, transient neonatal hypoglycemia, mild hypotonia and single umbilical artery). Methylation and copy number variations at chromosomes 11 and 7 were studied by methylation-specific multiplex ligation-dependent probe amplification and as no alterations were found, molecular karyotyping was performed. A deletion at 5p15.33p15.2 was identified (arr[GRCh37] 5p15.33p15.2(25942-11644643)x1), similar to those found in patients with Cri-du-chat Syndrome (CdCS). CdCS is a genetic disease resulting from a deletion of variable size occurring on the short arm of chromosome 5 (5p-), whose main feature is a high-pitched mewing cry in infancy, accompanied by multiple congenital anomalies, intellectual disability, microcephaly and facial dysmorphism.ConclusionsThe absence of some CdCS features in the current patient could be due to the fact that in her case the critical regions responsible do not lie within the identified deletion. In fact, a literature review revealed a high degree of concordance between the clinical manifestations of the two syndromes.

Published
2018

27. A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases

Author

Bullich, Gemma, primary, Domingo-Gallego, Andrea, additional, Vargas, Iván, additional, Ruiz, Patricia, additional, Lorente-Grandoso, Laura, additional, Furlano, Mónica, additional, Fraga, Gloria, additional, Madrid, Álvaro, additional, Ariceta, Gema, additional, Borregán, Mar, additional, Piñero-Fernández, Juan Alberto, additional, Rodríguez-Peña, Lidia, additional, Ballesta-Martínez, Maria Juliana, additional, Llano-Rivas, Isabel, additional, Meñica, Mireia Aguirre, additional, Ballarín, José, additional, Torrents, David, additional, Torra, Roser, additional, and Ars, Elisabet, additional

Published
2018
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28. Additional file 6: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

Author

Calmels, Nadège, Greff, Géraldine, Obringer, Cathy, Kempf, Nadine, Gasnier, Claire, Tarabeux, Julien, Miguet, Marguerite, Baujat, Geneviève, Bessis, Didier, Bretones, Patricia, Cavau, Anne, Digeon, Béatrice, Doco-Fenzy, Martine, Doray, Bérénice, Feillet, François, Gardeazabal, Jesus, Gener, Blanca, Julia, Sophie, Llano-Rivas, Isabel, Mazur, Artur, Michot, Caroline, Renaldo-Robin, Florence, Rossi, Massimiliano, Sabouraud, Pascal, Keren, Boris, Depienne, Christel, Muller, Jean, Jean-Louis Mandel, and Laugel, Vincent

Abstract

Clinical pictures and brain MRI of patients #16 (mutated in ERCC5(XPG)). Sagittal T1 and axial T2-Flair (PPTX 970 kb)

Published
2016
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29. Additional file 7: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

Author

Calmels, Nadège, Greff, Géraldine, Obringer, Cathy, Kempf, Nadine, Gasnier, Claire, Tarabeux, Julien, Miguet, Marguerite, Baujat, Geneviève, Bessis, Didier, Bretones, Patricia, Cavau, Anne, Digeon, Béatrice, Doco-Fenzy, Martine, Doray, Bérénice, Feillet, François, Gardeazabal, Jesus, Gener, Blanca, Julia, Sophie, Llano-Rivas, Isabel, Mazur, Artur, Michot, Caroline, Renaldo-Robin, Florence, Rossi, Massimiliano, Sabouraud, Pascal, Keren, Boris, Depienne, Christel, Muller, Jean, Jean-Louis Mandel, and Laugel, Vincent

Abstract

Clinical picture and molecular results of patients #17 (mutated in ERCC3(XPB)). A: clinical picture of patient #17. B: Patient #17 reads alignment (thanks to Alamut Visual) showing that both mutations c.296 T > C and c.325C > T were never observed on the same read. Forward reads are in green and reverse reads are in blue. (PPTX 477 kb)

Published
2016
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30. Additional file 3: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

Author

Calmels, Nadège, Greff, Géraldine, Obringer, Cathy, Kempf, Nadine, Gasnier, Claire, Tarabeux, Julien, Miguet, Marguerite, Baujat, Geneviève, Bessis, Didier, Bretones, Patricia, Cavau, Anne, Digeon, Béatrice, Doco-Fenzy, Martine, Doray, Bérénice, Feillet, François, Gardeazabal, Jesus, Gener, Blanca, Julia, Sophie, Llano-Rivas, Isabel, Mazur, Artur, Michot, Caroline, Renaldo-Robin, Florence, Rossi, Massimiliano, Sabouraud, Pascal, Keren, Boris, Depienne, Christel, Muller, Jean, Jean-Louis Mandel, and Laugel, Vincent

Abstract

Novel POLH splice mutation in non-related XP-variant patients. A: Pedigrees of the 4 XP-variant families coming from Northern Spain and mutated in the POLH gene. The arrows indicate the four patients studied by NGS. Patients #11, 12 and 13 were homozygous for the splice mutation c.764 + 1G > A whereas patient #10 was compound heterozygous for mutations c.764 + 1G > A and c.1445C > A (p.Ser482*). B: RT-PCR using RNA from patients #10 and 11, with forward primer in exon 5 and reverse primer in exon 8, showed a single 365 bp band in normal cells and two bands at323 bp and 261 bp in the homozygous patient #11. The diagram indicates partial deletion (42 bp) of exon 6 in the type I splice variant and deletion of the entire 104 bp of exon 6 in the type-II splice variant. The normal transcript was the major transcript in the heterozygous patient #10, with a fain band corresponding to the type I splice variant. (PPTX 92 kb)

Published
2016
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31. Additional file 5: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

Author

Calmels, Nadège, Greff, Géraldine, Obringer, Cathy, Kempf, Nadine, Gasnier, Claire, Tarabeux, Julien, Miguet, Marguerite, Baujat, Geneviève, Bessis, Didier, Bretones, Patricia, Cavau, Anne, Digeon, Béatrice, Doco-Fenzy, Martine, Doray, Bérénice, Feillet, François, Gardeazabal, Jesus, Gener, Blanca, Julia, Sophie, Llano-Rivas, Isabel, Mazur, Artur, Michot, Caroline, Renaldo-Robin, Florence, Rossi, Massimiliano, Sabouraud, Pascal, Keren, Boris, Depienne, Christel, Muller, Jean, Jean-Louis Mandel, and Laugel, Vincent

Abstract

Clinical pictures of patients #8 (A) and #9 (B) (mutated in ERCC8(CSA)). (PPTX 403 kb)

Published
2016
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33. Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

Author

Calmels, Nadège, primary, Greff, Géraldine, additional, Obringer, Cathy, additional, Kempf, Nadine, additional, Gasnier, Claire, additional, Tarabeux, Julien, additional, Miguet, Marguerite, additional, Baujat, Geneviève, additional, Bessis, Didier, additional, Bretones, Patricia, additional, Cavau, Anne, additional, Digeon, Béatrice, additional, Doco-Fenzy, Martine, additional, Doray, Bérénice, additional, Feillet, François, additional, Gardeazabal, Jesus, additional, Gener, Blanca, additional, Julia, Sophie, additional, Llano-Rivas, Isabel, additional, Mazur, Artur, additional, Michot, Caroline, additional, Renaldo-Robin, Florence, additional, Rossi, Massimiliano, additional, Sabouraud, Pascal, additional, Keren, Boris, additional, Depienne, Christel, additional, Muller, Jean, additional, Mandel, Jean-Louis, additional, and Laugel, Vincent, additional

Published
2016
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34. Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1

Author

Hirata, Yasuko, primary, Brems, Hilde, additional, Suzuki, Mayu, additional, Kanamori, Mitsuhiro, additional, Okada, Masahiro, additional, Morita, Rimpei, additional, Llano-Rivas, Isabel, additional, Ose, Toyoyuki, additional, Messiaen, Ludwine, additional, Legius, Eric, additional, and Yoshimura, Akihiko, additional

Published
2016
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35. The different forms of autism and their genetic causes

Author

Fernández Toral, Joaquín and Llano Rivas, Isabel

Subjects
Autismo, Factor de riesgo, Etiología, Trastornos del espectro autista, Discapacidad del lenguaje, Tipología, Efectos, Genética, Discapacidad intelectual
Abstract

El autismo es un conjunto de síntomas y signos, variables en su expresión dentro de un conjunto encuadrable en un síndrome, pero no es un diagnóstico. Lo será cuando en cada niño o adulto afectado podamos decir la causa exacta que lo originó, y ello nos llevará al camino que puede desembocar en su mejoría o curación. Mientras ello llega, la identificación precoz y el consiguiente tratamiento psicopedagógico y conductual adaptado a cada paciente, es la mejor terapia que poseemos...

Published
2010

37. Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1.

Author

Yasuko Hirata, Brems, Hilde, Mayu Suzuki, Mitsuhiro Kanamori, Masahiro Okada, Rimpei Morita, Llano-Rivas, Isabel, Toyoyuki Ose, Messiaen, Ludwine, Legius, Eric, and Akihiko Yoshimura

Subjects
*RAS proteins, *EXTRACELLULAR signal-regulated kinases, *GTPASE-activating protein, *NEUROFIBROMIN, *NEUROFIBROMATOSIS 1, *GENETIC mutation
Abstract

Constitutional heterozygous loss-of-function mutations in the SPRED1 gene cause a phenotype known as Legius syndrome, which consists of symptoms of multiple café-au-lait macules, axillary freckling, learning disabilities, and macrocephaly. Legius syndrome resembles a mild neurofibromatosis type 1 (NF1) phenotype. It has been demonstrated that SPRED1 functions as a negative regulator of the Ras-ERK pathway and interacts with neurofibromin, the NF1 gene product However, the molecular details of this interaction and the effects of the mutations identified in Legius syndrome and NF1 on this interaction have not yet been investigated. In this study, using a yeast two-hybrid system and an immunoprecipitation assay in HEK293 cells, we found that the SPRED1 EVH1 domain interacts with the N-terminal 16 amino acids and the C-terminal 20 amino acids of the GTPase-activating protein (GAP)-related domain (GRD) of neurofibromin, which form two crossing α-helix coils outside the GAP domain. These regions have been shown to be dispensable for GAP activity and are not present in p120GAP. Several mutations in these N- and C-terminal regions of the GRD in NF1 patients and pathogenic missense mutations in the EVH1 domain of SPRED1 in Legius syndrome reduced the binding affinity between the EVH1 domain and the GRD. EVH1 domain mutations with reduced binding to the GRD also disrupted the ERK suppression activity of SPRED1. These data clearly demonstrate that SPRED1 inhibits the Ras-ERK pathway by recruiting neurofibromin to Ras through the EVH1-GRD interaction, and this study also provides molecular basis for the pathogenic mutations of NF1 and Legius syndrome. [ABSTRACT FROM AUTHOR]

Published
2016
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38. [CHARGE syndrome].

Author

Lobete Prieto CJ, Llano Rivas I, Fernández Toral J, and Madero Barrajón P

Subjects
Female, Humans, Infant, Newborn, Male, Syndrome, Abnormalities, Multiple diagnosis, Coloboma diagnosis, Ear abnormalities, Genitalia abnormalities, Growth Disorders diagnosis, Heart Defects, Congenital diagnosis
Abstract

The characteristic phenotype of CHARGE syndrome includes: coloboma, congenital heart defect, choanal atresia, retarded growth and development, genital abnormalities, ear anomalies with or without hearing loss, which give the name (an acronym) to this condition. The molecular cause in 60% of the cases are mutations in the chromodomain helicase DNAbinding protein gene (CHD7), with an estimated frequency of 1 in 10,000 live born infants. We describe 3, not related patients with a clinical diagnosis of CHARGE syndrome and each of them with a different mutation in the CHD7 gene sequence.

Published
2010
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