Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith–Wiedemann syndrome

Beckwith–Wiedemann syndrome (BWS) is a congenital overgrowth disorder predisposing to tumorigenesis that results from abnormal expression or function of imprinted genes of chromosome 11p15.5. Forty-seven patients in Taiwan with clinical suspicion of BWS were referred for diagnostic testing based on...

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Bibliographic Details
Published in:Molecular genetics and metabolism 2016-09, Vol.119 (1-2), p.8-13
Main Authors: Lin, Hsiang-Yu, Chuang, Chih-Kuang, Tu, Ru-Yi, Fang, Yi-Ya, Su, Yi-Ning, Chen, Chih-Ping, Chang, Chia-Ying, Liu, Hsi-Che, Chu, Tzu-Hung, Niu, Dau-Ming, Lin, Shuan-Pei
Format: Article
Language:English
Subjects:
Adolescent
Adult
Beckwith-Wiedemann Syndrome - genetics
Beckwith-Wiedemann Syndrome - physiopathology
Beckwith–Wiedemann syndrome
Child
Child, Preschool
Cyclin-Dependent Kinase Inhibitor p57 - genetics
DNA Methylation - genetics
Epigenesis, Genetic - genetics
Epigenotype
Female
Genomic Imprinting
Genotype
Humans
Infant
Infant, Newborn
Male
Methylation
Phenotype
RNA, Long Noncoding - genetics
Young Adult
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Summary:Beckwith–Wiedemann syndrome (BWS) is a congenital overgrowth disorder predisposing to tumorigenesis that results from abnormal expression or function of imprinted genes of chromosome 11p15.5. Forty-seven patients in Taiwan with clinical suspicion of BWS were referred for diagnostic testing based on methylation profiling of H19-associated imprinting center (IC) 1 and KCNQ1OT1-associated IC2 using high-resolution melting analysis, multiplex ligation-dependent probe amplification, or high-resolution quantitative methylation profiling. Twenty-eight patients received a clinical diagnosis of BWS (the presence of 3 major features or 2 major features and at least 1 minor feature), 18 had suspected BWS (the presence of at least 1 major feature), and 1 had isolated Wilms' tumor. Nineteen patients were identified with IC2 hypomethylation (including 1 with isolated Wilms' tumor), 1 with IC1 hypermethylation, 2 with paternal uniparental disomy, and 1 with CDKN1C mutation. Several clinical features were found to be statistically different (P
ISSN:1096-7192
1096-7206
DOI:10.1016/j.ymgme.2016.07.003