Title |
Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology
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Published in |
Clinical Epigenetics, December 2013
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DOI | 10.1186/1868-7083-5-23 |
Pubmed ID | |
Authors |
Louise Tee, Derek HK Lim, Renuka P Dias, Marie-Odile Baudement, Amy A Slater, Gail Kirby, Tom Hancocks, Helen Stewart, Carol Hardy, Fiona Macdonald, Eamonn R Maher |
Abstract |
Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder associated with abnormalities in 11p15.5 imprinted genes. The most common cause is loss of methylation (epimutation) at the imprinting control centre 2 (IC2/KvDMR1). Most IC2 epimutations occur sporadically but an association with conception after assisted reproductive technologies (ART) has been reported. A subgroup of IC2 epimutation cases also harbour epimutations at other imprinting centres (ICs) outside of 11p15.5. We have investigated the relationship between these multiple epimutation cases (ME+), history of ART and clinical phenotype in a cohort of 187 BWS IC2 epimutation patients. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United Kingdom | 2 | 33% |
United States | 1 | 17% |
Germany | 1 | 17% |
Unknown | 2 | 33% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 3 | 50% |
Scientists | 2 | 33% |
Practitioners (doctors, other healthcare professionals) | 1 | 17% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 46 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Master | 10 | 22% |
Student > Doctoral Student | 9 | 20% |
Student > Bachelor | 5 | 11% |
Researcher | 5 | 11% |
Other | 3 | 7% |
Other | 6 | 13% |
Unknown | 8 | 17% |
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Medicine and Dentistry | 14 | 30% |
Biochemistry, Genetics and Molecular Biology | 13 | 28% |
Agricultural and Biological Sciences | 9 | 20% |
Nursing and Health Professions | 1 | 2% |
Design | 1 | 2% |
Other | 0 | 0% |
Unknown | 8 | 17% |