Identifier to cite or link to this item: http://hdl.handle.net/20.500.13003/11810
X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients
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ISSN: 2045-2322
WOS ID: 000481590200024
Scopus EID: 2-s2.0-85071052066
PMID: 31427717
Embase PUI: L629133554
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Xiol, Clara; Vidal, Silvia; Pascual-Alonso, Ainhoa; Blasco, Laura; Brandi, Nuria; Pacheco, Paola; Gerotina, Edgar; O'Callaghan, Mar; Pineda, Merce; Armstrong, Judith; Javier Aguirre, Francisco; Aleu, Montserrat; Alonso, Xenia; Alsius, Merce; Inmaculada Amoros, Maria; Antinolo, Guillermo; Aquino, Lourdes; Arellano, Carmen; Arriola, Gema; Arteaga, Rosa; Baena, Neus; Barcos, Montserrat; Belzunces, Nuria; Boronat, Susana; Camacho, Tomas; Campistol, Jaume; del Campo, Miguel; Campo, Andrea; Cancho, Ramon; Candau, Ramon; Canos, Ignacio; del Carmen Carrascosa, Maria; Carratala-Marco, Francisco; Casano, Jovani; Castro, Pedro; Cobo, Ana; Colomer, Jaime; Conejo, David; Jose Corrales, Maria; Cortes, Rocio; Cruz, Gabriel; Csanyi, Gabor; Teresa de Santos, Maria; de Toledo, Maria; Del Campo, Miguel; Del Toro, Mireia; Domingo, Rosario; Duat, Anna; Duque, Rosario; Maria Esparza, Ana; Fernandez, Rosa; Carme Fons, Maria; Fontalba, Ana; Galan, Enrique; Gallano, Pia; Jose Gamundi, Maria; Luis Garcia, Pedro; del Mar Garcia, Maria; Garcia-Barcina, Maria; Jesus Garcia-Catalan, Maria; Garcia-Cazorla, Angels; Garcia-Minaur, Sixto; Jose Garcia-Penas, Juan; Teresa Garcia-Silva, Maria; Gassio, Rosa; Gean, Esther; Gil, Belen; Gokben, Sarenur; Gonzalez, Luis; Gonzalez, Veronica; Gonzalez, Julieta; Gonzalez, Gloria; Guillen, Encarna; Guitart, Miriam; Guitet, Montserrat; Manuel Gutierrez, Juan; Gutierrez, Eva; Luis Herranz, Jose; Iglesias, Gemma; Karacic, Iva; Lahoz, Carlos H.; Ignacio Lao, Jose; Lapunzina, Pablo; Jesus Lautre-Ecenarro, Maria; Dolores Lluch, Maria; Lopez, Laura; Lopez-Ariztegui, Asuncion; Macaya, Alfons; Marin, Rosario; Lourenco Marquez, Charles M.; Martin, Elena; Martinez, Beatriz; Martinez-Salcedo, Eduardo; Jose Mas, Maria; Mateo, Gonzalo; Mendez, Pilar; Morant Jimenez, Amparo; Moreno, Sira; Mulas, Fernando; Narbona, Juan; Nascimento, Andres; Nieto, Manuel; Fabiola Nunes, Tania; Nunez, Nuria; Obon, Maria; Onsurbe, Ignacio; Ignacio Ortez, Carlos; Orts, Emilio; Martinez, Francisco; Parrilla, Rafael; Ignacio Pascual, Samuel; Patino, Ana; Perez-Poyato, Maria; Perez-Duenas, Belen; Poo, Pilar; Puche, Eliodoro; Ramos, Feliciano; Raspall, Miquel; Roche, Ana; Roldan, Susana; Rosell, Jordi; Ruiz, Cesar; Luz Ruiz-Falco, Maria; Eugenia Russi, Maria; Samarra, Jordi; San Antonio, Victoria; Sanchez, Ivan; Sanmartin, Xavier; Sans, Ana; Santacana, Alfredo; Scholl-Burgi, Sabine; Serrano, Nuria; Serrano, Mercedes; Martin-Tamayo, Pilar; Tendero, Adrian; Torrents, Jaime; Tortosa, Diego; Trivino, Emma; Troncoso, Ledia; Turon, Eulalia; Vazquez, Pilar; Vazquez, Carlos; Velazquez, Ramon; Ventura, Clara; Verdu, Alfonso; Vernet, Anna; Tomas Vila, M.; Villar, Cristina; Rett Working GrpPublication date
2019-08-19Document type
research articleCitation
Xiol C, Vidal S, Pascual-Alonso A, Blasco L, Brandi N, Pacheco P, et al. X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients. Sci Rep. 2019 Aug 19;9:11983.Abstract
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.
Publisher version
https://dx.doi.org/10.1038/s41598-019-48385-wMeSH
BrainGenetic Predisposition to Disease
Genotype
X Chromosome Inactivation
Alleles
Humans
Phenotype
Genes, X-Linked
Mutation
Female
Rett Syndrome
Methyl-CpG-Binding Protein 2
Genetic Association Studies
Sequence Analysis, DNA
DeCS
Análisis de Secuencia de ADNPredisposición Genética a la Enfermedad
Femenino
Síndrome de Rett
Mutación
Inactivación del Cromosoma X
Alelos
Genes Ligados a X
Humanos
Estudios de Asociación Genética
Genotipo
Fenotipo
Encéfalo
Proteína 2 de Unión a Metil-CpG
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