Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/120050
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Type: Journal article
Title: Clinical and molecular analyses of Beckwith–Wiedemann syndrome: comparison between spontaneous conception and assisted reproduction techniques
Author: Tenorio, J.
Romanelli, V.
Martin-Trujillo, A.
Fernández, G.
Segovia, M.
Perandones, C.
Pérez Jurado, L.
Esteller, M.
Fraga, M.
Arias, P.
Gordo, G.
Dapía, I.
Mena, R.
Palomares, M.
Pérez de Nanclares, G.
Nevado, J.
García-Miñaur, S.
Santos-Simarro, F.
Martinez-Glez, V.
Vallespín, E.
et al.
Citation: American Journal of Medical Genetics, Part A, 2016; 170(10):2740-2749
Publisher: Wiley
Issue Date: 2016
ISSN: 1552-4825
1552-4833
Statement of
Responsibility: 
Jair Tenorio, Valeria Romanelli, Alex Martin‐Trujillo, García‐Moya Fernández Mabel Segovia ... Luis A. Perez-Jurado ... et al.
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. © 2016 Wiley Periodicals, Inc.
Keywords: Genome‐wide hypomethylation; assisted reproductive techniques; Beckwith–Wiedemann syndrome; imprinting disorders; multi‐locus imprinting disturbance; KCNQ1OT1:TSS‐DMR; H19/IGF2:IG‐DMR
Rights: © 2016 Wiley Periodicals, Inc.
RMID: 0030079582
DOI: 10.1002/ajmg.a.37852
Appears in Collections:Genetics publications

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