Novel deletion in 11p15.5 imprinting center region 1 in a patient with Beckwith-Wiedemann syndrome provides insight into distal enhancer regulation and tumorigenesis.

Bachmann, Nadine; Crazzolara, Roman; Bohne, Florian; Kotzot, Dieter; Maurer, Kathrin; Enklaar, Thorsten; Prawitt, Dirk; Bergmann, Carsten

doi:10.1002/pbc.26241

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Novel deletion in 11p15.5 imprinting center region 1 in a patient with Beckwith-Wiedemann syndrome provides insight into distal enhancer regulation and tumorigenesis.

Author(s): Nadine Bachmann ¹ , Roman Crazzolara ² ^, ³ , Florian Bohne ⁴ , Dieter Kotzot ⁵ , Kathrin Maurer ² , Thorsten Enklaar ⁴ , Dirk Prawitt ⁴ , Carsten Bergmann ¹ ^, ⁶

Publication date (Electronic): March 2017

Journal: Pediatric blood & cancer

Publisher: Wiley

Keywords: Beckwith-Wiedemann syndrome, embryonal tumors, imprinting and allele-specific expression, insulin-like growth factor 2, pediatric cancers

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Abstract

Beckwith-Wiedemann syndrome (BWS) is an early-onset overgrowth disorder with a high risk for embryonal tumors. It is mainly caused by dysregulation of imprinted genes on chromosome 11p15.5; however, the driving forces in the development of tumors are not fully understood.

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Journal ID (iso-abbrev): Pediatr Blood Cancer

Title: Pediatric blood & cancer

Publisher: Wiley

ISSN (Electronic): 1545-5017

ISSN (Print): 1545-5009

Publication date (Electronic): March 2017

Volume: 64

Issue: 3

Affiliations

[1 ] Center for Human Genetics, Bioscientia, Ingelheim, Germany.

[2 ] Department for Pediatrics, Medical University Innsbruck, Innsbruck, Austria.

[3 ] Tyrolean Cancer Research Institute, Innsbruck, Austria.

[4 ] Center for Pediatrics and Adolescent Medicine, Johannes Gutenberg University Medical Center, Mainz, Germany.

[5 ] Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.

[6 ] Department of Medicine, University Hospital Freiburg, Freiburg, Germany.

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DOI: 10.1002/pbc.26241

PubMed ID: 27650505

SO-VID: 27fa006b-0052-4816-a72f-6147d33d2f57

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Keywords: Beckwith-Wiedemann syndrome,embryonal tumors, imprinting and allele-specific expression,insulin-like growth factor 2, pediatric cancers

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Keywords: Beckwith-Wiedemann syndrome, embryonal tumors, imprinting and allele-specific expression, insulin-like growth factor 2, pediatric cancers

Novel deletion in 11p15.5 imprinting center region 1 in a patient with Beckwith-Wiedemann syndrome provides insight into distal enhancer regulation and tumorigenesis.

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