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<p>Beckwith–Wiedemann spectrum (BWSp) is a genomic imprinting disorder characterized by a wide range of clinical features. Here we report an infant with BWSp and atypical features, for whom long-read sequencing confirmed a de novo <i>CDKN1C</i> variant that occurred on the maternally inherited allele and excluded other genetic etiologies. These findings not only expand the BWSp concept but also highlight the potential value of allelic origin analysis in cases with atypical presentations.</p>

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De novo CDKN1C variant in Beckwith–Wiedermann spectrum with atypical complications

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年5月28日

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  • Yuri Moriura,
  • Yosuke Nishio,
  • Shintaro Ichimura,
  • Haruka Noda,
  • Yoshihiro Tanahashi,
  • Hikaru Yamamoto,
  • Yuka Nakazawa,
  • Taichi Oso,
  • Yoshiaki Sato,
  • Toshiki Takenouchi,
  • Shinji Saitoh,
  • Yukako Muramatsu,
  • Tomoo Ogi

摘要

Beckwith–Wiedemann spectrum (BWSp) is a genomic imprinting disorder characterized by a wide range of clinical features. Here we report an infant with BWSp and atypical features, for whom long-read sequencing confirmed a de novo CDKN1C variant that occurred on the maternally inherited allele and excluded other genetic etiologies. These findings not only expand the BWSp concept but also highlight the potential value of allelic origin analysis in cases with atypical presentations.