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Title: | Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques | Authors: | Tenorio, Jair Romanelli, Valeria Martin-Trujillo, Alex Fernández, García-Moya Segovia, Mabel Perandones, Claudia Pérez Jurado, Luis A Esteller, Manel Fraga, Mario Arias, Pedro Gordo, Gema Dapía, Irene Mena, Rocío Palomares, María Pérez de Nanclares, Guiomar Nevado, Julián García-Miñaur, Sixto Santos-Simarro, Fernando Martinez-Glez, Víctor Vallespín, Elena Monk, David Lapunzina, Pablo |
Keywords: | Síndrome de Beckwith-Wiedemann;Técnicas Reproductivas Asistidas;Impresión Genómica | Issue Date: | 2016 | Journal: | American journal of medical genetics. Part A | Abstract: | Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome characterized by an excessive prenatal and postnatal growth, macrosomia, macroglossia, and hemihyperplasia. The molecular basis of this syndrome is complex and heterogeneous, involving genes located at 11p15.5. BWS is correlated with assisted reproductive techniques. BWS in individuals born following assisted reproductive techniques has been found to occur four to nine times higher compared to children with to BWS born after spontaneous conception. Here, we report a series of 187 patients with to BWS born either after assisted reproductive techniques or conceived naturally. Eighty-eight percent of BWS patients born via assisted reproductive techniques had hypomethylation of KCNQ1OT1:TSS-DMR in comparison with 49% for patients with BWS conceived naturally. None of the patients with BWS born via assisted reproductive techniques had hypermethylation of H19/IGF2:IG-DMR, neither CDKN1 C mutations nor patUPD11. We did not find differences in the frequency of multi-locus imprinting disturbances between groups. Patients with BWS born via assisted reproductive techniques had an increased frequency of advanced bone age, congenital heart disease, and decreased frequency of earlobe anomalies but these differences may be explained by the different molecular background compared to those with BWS and spontaneous fertilization. We conclude there is a correlation of the molecular etiology of BWS with the type of conception. |
Description: | Fil: Tenorio, Jair. Hospital Universitario La Paz. Instituto de Genética Médica y Molecular; Madrid, España. Fil: Romanelli, Valeria. Hospital Universitario La Paz. Instituto de Genética Médica y Molecular; Madrid, España. Fil: Martin-Trujillo, Alex. Centro de Investigación Biomédica en Red de Enfermedades Raras; Madrid, España. Fil: Fernández, García-Moya. Hospital Universitario La Paz. Instituto de Genética Médica y Molecular; Madrid, España. Fil: Segovia, Mabel. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina. Fil: Perandones, Claudia. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina. Fil: Pérez Jurado, Luis A. Universitat Pompeu Fabra; Barcelona, España. Fil: Esteller, Manel. Instituto de Investigación Biomédica de Bellvitge. Cancer Genetics Group; Barcelona, España. Fil: Fraga, Mario. Hospital Universitario Central de Asturias. Instituto Universitario de Oncología. Unidad de Epigenética del Cáncer; Oviedo, España Fil: Arias, Pedro. Hospital Universitario La Paz. Instituto de Genética Médica y Molecular; Madrid, España. Fil: Gordo, Gema. Hospital Universitario La Paz. Instituto de Genética Médica y Molecular; Madrid, España. Fil: Dapía, Irene. Hospital Universitario La Paz. Instituto de Genética Médica y Molecular; Madrid, España. Fil: Mena, Rocío. Hospital Universitario La Paz. Instituto de Genética Médica y Molecular; Madrid, España. Fil: Palomares, María. Hospital Universitario La Paz. Instituto de Genética Médica y Molecular; Madrid, España. Fil: Pérez de Nanclares, Guiomar. Hospital Universitario Araba. Molecular Genetics Laboratory. Research Unit; Vitoria-Gasteiz, España. Fil: Nevado, Julián. Hospital Universitario La Paz. Instituto de Genética Médica y Molecular; Madrid, España. Fil: García-Miñaur, Sixto. Hospital Universitario La Paz. Instituto de Genética Médica y Molecular; Madrid, España. Fil: Santos-Simarro, Fernando. Hospital Universitario La Paz. Instituto de Genética Médica y Molecular; Madrid, España. Fil: Martinez-Glez, Víctor. Hospital Universitario La Paz. Instituto de Genética Médica y Molecular; Madrid, España. Fil: Vallespín, Elena. Hospital Universitario La Paz. Instituto de Genética Médica y Molecular; Madrid, España. Fil: Monk, David. Instituto de Investigación Biomédica. Cancer Epigenetic and Biology Program. Imprinting and Cancer Group; Barcelona, España. Fil: Lapunzina, Pablo. Hospital Universitario La Paz. Instituto de Genética Médica y Molecular; Madrid, España. |
URI: | http://sgc.anlis.gob.ar/handle/123456789/607 https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.a.37852 |
DOI: | https://doi.org/10.1002/ajmg.a.37852 |
Appears in Collections: | Publicaciones |
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