title: A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith-Wiedemann syndrome.
abstract: Beckwith-Wiedemann syndrome (BWS; OMIM #130650) is an overgrowth syndrome caused by different genetic or epigenetic alterations affecting imprinted regions on chromosome 11p15.5. Here we report a family with multiple offspring affected with BWS including giant omphalocoeles in which maternal transmission of a chromosomal rearrangement including an inversion and two deletions leads to hypomethylation of the imprint control region 2 (ICR2). As the deletion includes the promoter and 5' part of the KCNQ1 gene, we suggest that transcription of this gene may be involved in establishing the maternal methylation imprint of the ICR2, which is located in intron 10 of KCNQ1.
authors.affiliation: Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
authors.forename: Jasmin
authors.initials: J
authors.lastname: Beygo
authors.affiliation: Clinic of Gynecology and Obstetrics Narodni front, Belgrade, Serbia.
authors.forename: Ivana
authors.initials: I
authors.lastname: Joksic
authors.affiliation: Institut für Humangenetik, Technische Universität München, München, Germany.
authors.forename: Tim M
authors.initials: TM
authors.lastname: Strom
authors.affiliation: Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
authors.forename: Hermann-Josef
authors.initials: HJ
authors.lastname: Lüdecke
authors.affiliation: Institut für Humangenetik, Christian-Albrechts-Universität Kiel and Universitätsklinikum Schleswig-Holstein, Campus Kiel, Germany.
authors.forename: Julia
authors.initials: J
authors.lastname: Kolarova
authors.affiliation: Institut für Humangenetik, Christian-Albrechts-Universität Kiel and Universitätsklinikum Schleswig-Holstein, Campus Kiel, Germany.
authors.forename: Reiner
authors.initials: R
authors.lastname: Siebert
authors.affiliation: Clinic of Gynecology and Obstetrics Narodni front, Belgrade, Serbia.
authors.forename: Zeljko
authors.initials: Z
authors.lastname: Mikovic
authors.affiliation: Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
authors.forename: Bernhard
authors.initials: B
authors.lastname: Horsthemke
authors.affiliation: Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
authors.forename: Karin
authors.initials: K
authors.lastname: Buiting
mesh_terms: D000328:Adult; D001506:Beckwith-Wiedemann Syndrome / Q000175:diagnosis / Q000235:genetics*; D002872:Chromosome Deletion; D007446:Chromosome Inversion; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D019175:DNA Methylation; D005260:Female; D018392:Genomic Imprinting; D006801:Humans; D051657:KCNQ1 Potassium Channel / Q000235:genetics; D008297:Male; D000072740:Paternal Inheritance; D010375:Pedigree
chemical_list: D051657:KCNQ1 Potassium Channel; C496909:KCNQ1 protein, human
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