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<p>Most Beckwith–Wiedemann syndrome (BWS) cases are sporadic; nonetheless, imprinting center 1 (IC1) microdeletions have been suggested as a rare cause of familial BWS, with ~ 20 reported cases. We report 13 cases from nine families with IC1 microdeletions. Recurrent 1.4-kb, 1.8-kb, and 2.2-kb deletions were observed. IC1 hypermethylation was identified in all families, and we established a statistically significant relationship between IC1 microdeletions and hypermethylation (OR: 108.17, <i>p</i> = 2.76e-13). This study confirms IC1 microdeletions as a cause of familial BWS, expands the understanding of their molecular mechanisms, and supports a Likely Pathogenic clinical classification for IC1 microdeletions.</p>

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Thirteen cases support the clinical significance of imprinting center 1 (IC1) microdeletions in Beckwith–Wiedemann syndrome

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年4月29日

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  • Qiliang Ding,
  • Zinandre Stander,
  • Brandon J. Elizalde,
  • Erica S. Stelmach,
  • Jaime C. Duncan,
  • Noemi Vidal-Folch,
  • Linda Hasadsri,
  • Kandelaria M. Rumilla,
  • Wei Shen

摘要

Most Beckwith–Wiedemann syndrome (BWS) cases are sporadic; nonetheless, imprinting center 1 (IC1) microdeletions have been suggested as a rare cause of familial BWS, with ~ 20 reported cases. We report 13 cases from nine families with IC1 microdeletions. Recurrent 1.4-kb, 1.8-kb, and 2.2-kb deletions were observed. IC1 hypermethylation was identified in all families, and we established a statistically significant relationship between IC1 microdeletions and hypermethylation (OR: 108.17, p = 2.76e-13). This study confirms IC1 microdeletions as a cause of familial BWS, expands the understanding of their molecular mechanisms, and supports a Likely Pathogenic clinical classification for IC1 microdeletions.