دورية أكاديمية
Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith-Wiedemann Syndrome
| العنوان: | Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith-Wiedemann Syndrome |
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| المؤلفون: | Kim, Hwa Young, Shin, Choong Ho, Lee, Young Ah, Shin, Chang Ho, Kim, Gu-Hwan, Ko, Jung Min |
| المساهمون: | Shin, Choong Ho, Ko, Jung Min |
| بيانات النشر: | 대한진단검사의학회 |
| سنة النشر: | 2022 |
| المجموعة: | Seoul National University: S-Space |
| الوصف: | Background: Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder caused by genetic or epigenetic alterations at two imprinting centers (ICs) in the 11p15.5 region. Delineation of the molecular defects is important for prognosis and predicting familial recurrence. We evaluated epigenetic alterations and potential epigenotype-phenotype correlations in Korean children with BWS. Methods: Forty children with BWS with proven genetic or epigenetic defects in the 11p15.5 region were included. The phenotype was scored using the BWS consensus scoring system. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA), bisulfite pyrosequencing, a single-nucleotide polymorphism microarray, and CDKN1C sequencing were used for confirmative diagnosis. Results: Patients met the criteria for genetic testing, with a mean clinical score of 5.4 +/- 2.0. Methylation alterations were consistent between MS-MLPA and bisulfite pyrosequencing in all patients. Twenty-six patients (65.0%) had IC2 loss of methylation (IC2-LoM), 11 (27.5%) had paternal uniparental disomy (patUPD), and one (2.5%) had IC1 gain of methylation. Macroglossia and external ear anomalies were more common in IC2-LoM than in patUPD, and lateralized overgrowth was more common in patUPD than in IC2-LoM (all P < 0.05). Methylation levels at IC2 were inversely correlated with birth weight standard deviation score (r=-0.476, P = 0.014) and clinical score (r=-0.520, P = 0.006) in the IC2-LoM group. Conclusions: Comprehensive molecular analysis of the 11p15.5 region revealed epigenotype-phenotype correlations in our BWS cohort. Bisulfite pyrosequencing can help clarify epigenotypes. Methylation levels were correlated with fetal growth and clinical severity in patients with BWS. ; N ; 1 |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | unknown |
| تدمد: | 2234-3806 |
| العلاقة: | Annals of Laboratory Medicine, Vol.42 No.6, pp.668-677; https://hdl.handle.net/10371/184657Test; 000823355500008; 2-s2.0-85133106048; 166696 |
| DOI: | 10.3343/alm.2022.42.6.668 |
| الإتاحة: | https://doi.org/10.3343/alm.2022.42.6.668Test https://hdl.handle.net/10371/184657Test |
| رقم الانضمام: | edsbas.11054937 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 22343806 |
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| DOI: | 10.3343/alm.2022.42.6.668 |