Evidence map›Paper›PMID 31174542›Full record

ArticleBMC medical genomics2019

Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report.

Caroline Lekszas, Indrajit Nanda, Barbara Vona, Julia Böck, Farah Ashrafzadeh, Nahid Donyadideh, Farnoosh Ebrahimzadeh, Najmeh Ahangari, Reza Maroofian, Ehsan Ghayoor Karimiani and 1 more

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In one paragraph

Article in BMC medical genomics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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2citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

11 authors.

Caroline LekszasInstitute of Human Genetics, Julius Maximilians University Würzburg, Biozentrum, Am Hubland, 97074, Würzburg, Germany.
Indrajit NandaInstitute of Human Genetics, Julius Maximilians University Würzburg, Biozentrum, Am Hubland, 97074, Würzburg, Germany.
Barbara VonaInstitute of Human Genetics, Julius Maximilians University Würzburg, Biozentrum, Am Hubland, 97074, Würzburg, Germany.
Julia BöckInstitute of Human Genetics, Julius Maximilians University Würzburg, Biozentrum, Am Hubland, 97074, Würzburg, Germany.
Farah AshrafzadehDepartment of Pediatric Diseases, Mashhad University of Medical Sciences, Mashhad, Iran.
Nahid DonyadidehDepartment of Pediatric Diseases, Mashhad University of Medical Sciences, Mashhad, Iran.
Farnoosh EbrahimzadehDepartment of Internal Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Najmeh AhangariDepartment of Modern Sciences and Technologies, Mashhad University of Medical Sciences, Mashhad, Iran.
Reza MaroofianMolecular and Clinical Sciences Institute, St. George's University of London, Cranmer Terrace, London, UK.
Ehsan Ghayoor KarimianiMolecular and Clinical Sciences Institute, St. George's University of London, Cranmer Terrace, London, UK.
Thomas HaafInstitute of Human Genetics, Julius Maximilians University Würzburg, Biozentrum, Am Hubland, 97074, Würzburg, Germany. thomas.haaf@uni-wuerzburg.de.ORCID 0000-0002-0737-0763

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe vast majority of cases with Beckwith-Wiedemann syndrome (BWS) are caused by a molecular defect in the imprinted chromosome region 11p15.5. The underlying mechanisms include epimutations, uniparental disomy, copy number variations, and structural rearrangements. In addition, maternal loss-of-function mutations in CDKN1C are found. Despite growing knowledge on BWS pathogenesis, up to 20% of patients with BWS phenotype remain without molecular diagnosis. CASE PRESENTATION: Herein, we report an Iranian family with two females affected with BWS in different generations. Bisulfite pyrosequencing revealed hypermethylation of the H19/IGF2: intergenic differentially methylated region (IG DMR), also known as imprinting center 1 (IC1) and hypomethylation of the KCNQ1OT1: transcriptional start site (TSS) DMR (IC2). Array CGH demonstrated an 8 Mb duplication on chromosome 11p15.5p15.4 (205,827-8,150,933) and a 1 Mb deletion on chromosome 9p24.3 (209,020-1,288,114). Chromosome painting revealed that this duplication-deficiency in both patients is due to unbalanced segregation of a paternal reciprocal t(9;11)(p24.3;p15.4) translocation.

conclusionsThis is the first report of a paternally inherited unbalanced translocation between the chromosome 9 and 11 short arms underlying familial BWS. Copy number variations involving the 11p15.5 region are detected by the consensus diagnostic algorithm. However, in complex cases which do not only affect the BWS region itself, characterization of submicroscopic chromosome rearrangements can assist to estimate the recurrence risk and possible phenotypic outcomes.

Indexed as

FathersPedigreeTranslocation, GeneticAdultBeckwith-Wiedemann SyndromeChromosomes, Human, Pair 11Cyclin-Dependent Kinase Inhibitor p57FemaleHumansMaleMothersMutationPregnancyCyclin-Dependent Kinase Inhibitor p57Copy number variationDuplication-deficiencyFamilial Beckwith-Wiedemann syndromeGenomic imprintingReciprocal translocationSubmicroscopic chromosome rearrangement

Identifiers

PMID31174542
PMCPMC6555757

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