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dc.contributor.author | Tejada, María-Isabel | |
dc.contributor.author | Glover, Guillermo | |
dc.contributor.author | Martínez, Francisco | |
dc.contributor.author | Guitart, Miriam | |
dc.contributor.author | Diego-Otero, Yolanda de | |
dc.contributor.author | Fernández-Carvajal, Isabel | |
dc.contributor.author | Ramos, Feliciano J | |
dc.contributor.author | Hernández-Chico, Concepción | |
dc.contributor.author | Pintado, Elizabet | |
dc.contributor.author | Rosell, Jordi | |
dc.contributor.author | Calvo, María-Teresa | |
dc.contributor.author | Ayuso, Carmen | |
dc.contributor.author | Ramos-Arroyo, María-Antonia | |
dc.contributor.author | Maortua, Hiart | |
dc.contributor.author | Milà, Montserrat | |
dc.date.accessioned | 2024-01-15T18:17:16Z | |
dc.date.available | 2024-01-15T18:17:16Z | |
dc.date.issued | 2014-05-28 | |
dc.identifier.other | http://hdl.handle.net/10668/1836 | |
dc.identifier.other | http://hdl.handle.net/20.500.13003/11381 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12105/17069 | |
dc.description.abstract | Fragile X syndrome is the most common inherited form of intellectual disability. Here we report on a study based on a collaborative registry, involving 12 Spanish centres, of molecular diagnostic tests in 1105 fragile X families comprising 5062 individuals, of whom, 1655 carried a full mutation or were mosaic, three cases had deletions, 1840 had a premutation, and 102 had intermediate alleles. Two patients with the full mutation also had Klinefelter syndrome. We have used this registry to assess the risk of expansion from parents to children. From mothers with premutation, the overall rate of allele expansion to full mutation is 52.5%, and we found that this rate is higher for male than female offspring (63.6% versus 45.6%; P < 0.001). Furthermore, in mothers with intermediate alleles (45-54 repeats), there were 10 cases of expansion to a premutation allele, and for the smallest premutation alleles (55-59 repeats), there was a 6.4% risk of expansion to a full mutation, with 56 repeats being the smallest allele that expanded to a full mutation allele in a single meiosis. Hence, in our series the risk for alleles of <59 repeats is somewhat higher than in other published series. These findings are important for genetic counselling. | |
dc.language.iso | eng | |
dc.publisher | Hindawi | |
dc.type.hasVersion | VoR | |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0/ | * |
dc.subject | Alelos | |
dc.subject | Síndrome del cromosoma X frágil | |
dc.subject | Frecuencia génica | |
dc.subject | Pruebas genéticas | |
dc.subject | Sistema de registros | |
dc.subject | España | |
dc.subject.mesh | Adult | |
dc.subject.mesh | Alleles | |
dc.subject.mesh | Child | |
dc.subject.mesh | Child, Preschool | |
dc.subject.mesh | Female | |
dc.subject.mesh | Fragile X Syndrome | |
dc.subject.mesh | Gene Frequency | |
dc.subject.mesh | Genetic Testing | |
dc.subject.mesh | Humans | |
dc.subject.mesh | Infant | |
dc.subject.mesh | Infant, Newborn | |
dc.subject.mesh | Middle Aged | |
dc.subject.mesh | Registries | |
dc.subject.mesh | Spain | |
dc.subject.mesh | Adolescent | |
dc.title | Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain. | |
dc.type | research article | |
dc.rights.license | Attribution 4.0 International | * |
dc.identifier.pubmedID | 24987673 | es_ES |
dc.identifier.doi | 10.1155/2014/195793 | |
dc.identifier.e-issn | 2314-6141 | es_ES |
dc.relation.publisherversion | http://www.hindawi.com/journals/bmri/2014/195793/abs/ | es |
dc.identifier.journal | BioMed Research International | es_ES |
dc.rights.accessRights | open access | es_ES |
dc.contributor.authoraffiliation | [Tejada,MI; Maortua,H] Laboratorio de Genetica Molecular, Servicio de Genética, Hospital Universitario Cruces, BioCruces Health Research Institute, GCV-CIBER de Enfermedades Raras (CIBERER-ISCIII), Barakaldo, Bizkaia, Spain. [Glover,G] Unidad de Genetica Molecular, Centro de Bioquímica y Genetica Clínica, Hospital Clínico Universitario Virgen de la Arrixaca, El Palmar, Murcia, Spain. [Martínez,F] Unidad de Genetica, Hospital Universitario La Fe, Valencia, Spain. [Guitart,M] Laboratorio de Genetica, UDIAT-Centre Diagnóstic, Corporaciò Sanitária Parc Taulí, Institut Universitari UAB, Sabadell, Barcelona, Spain. [Diego-Otero,Y de] Unidad de Gestion Clínica de Salud Mental, Hospital Regional Universitario de Malaga, Instituto de Investigacion Biomédica de Málaga (IBIMA), Málaga, Spain. [Fernández-Carvajal] Instituto de Biología y Genetica Molecular (IBGM), Universidad de Valladolid, CSIC, Valladolid, Spain. [Ramos,FJ] Consulta de Genetica Clínica, Servicio de Pediatría, Hospital Clínico Universitario Lozano Blesa, Facultad de Medicina, Universidad de Zaragoza, GCV-CIBER de Enfermedades Raras (CIBERER-ISCIII), Zaragoza, Spain. [Hernández-Chico,C] Servicio de Genetica, Hospital Ramón y Cajal, Madrid, Spain. [Pintado,E] Servicio de Biología Molecular, Hospital Virgen Macarena y Universidad de Sevilla, Sevilla, Spain. [Rosell,J] Servicio de Genetica, Hospital Universitari Son Espases, GCV-CIBER de Enfermedades Raras (CIBERER-ISCIII), Palma de Mallorca, Illes Balears, Spain. [Calvo,MT] Unidad de Genetica Médica, Hospital Universitario Miguel Servet, Zaragoza, Spain. [Ayuso,C] Servicio de Genetica, IIS-Hospital Universitario Fundacion Jiménez Díaz (IIS-FJD, UAM), CIBER de Enfermedades Raras (CIBERER-ISCIII), Madrid, Spain. [Ramos-Arroyo,MA] Servicio de Genetica, Complejo Hospitalario de Navarra, Pamplona, Spain. [Milà,M] Servicio de Bioquímica y Genetica Molecular, Hospital Clinic, IDIBAPS, CIBER de Enfermedades Raras (CIBERER-ISCIII), Barcelona, Spain. |
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IDIBAPS - Instituto de Investigaciones Biomédicas August Pi i Sunyer (Cataluña)
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IIS BioBizkaia - Asociación Instituto de Investigación Sanitaria BioBizkaia (País Vasco)
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IBIMA-Plataforma BIONAND - Instituto de Investigación Biomédica de Málaga y Plataforma en Nanomedicina (Andalucía)
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IIS-FJD - Instituto de Investigación Sanitaria Fundación Jiménez Díaz (Madrid)