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Your search keyword '"Lopez-Gonzalez, Vanessa"' showing total 3 results
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3 results on '"Lopez-Gonzalez, Vanessa"'

1. Further refinement of COL4A1 and COL4A2 related cortical malformations

Author

Cavallin, Mara, Mine, Manuele, Philbert, Marion, Boddaert, Nathalie, Lepage, Jean Marie, Coste, Thibault, Lopez-Gonzalez, Vanessa, Sanchez-Soler, Maria Jose, Ballesta-Martínez, Maria Juliana, Remerand, Ganaëlle, Pasquier, Laurent, Guët, Agnès, Chelly, Jamel, Lascelles, Karine, Prieto-Morin, Carol, Kossorotoff, Manoelle, Tournier Lasserve, Elisabeth, and Bahi-Buisson, Nadia

Published
2018
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2. 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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3. 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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