伴有非典型并发症的贝克威思-维德曼综合征中的新发CDKN1C变异体
De novo CDKN1C variant in Beckwith-Wiedermann spectrum with atypical complications.
作者信息
Moriura Yuri, Nishio Yosuke, Ichimura Shintaro, Noda Haruka, Tanahashi Yoshihiro, Yamamoto Hikaru, Nakazawa Yuka, Oso Taichi, Sato Yoshiaki, Takenouchi Toshiki, Saitoh Shinji, Muramatsu Yukako, Ogi Tomoo
机构信息
Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan.
出版信息
Hum Genome Var. 2025 May 28;12(1):9. doi: 10.1038/s41439-025-00316-0.
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.
贝克威思-维德曼综合征谱系（BWSp）是一种基因组印记障碍，其特征为具有广泛的临床特征。在此，我们报告一名患有BWSp且具有非典型特征的婴儿，长读长测序证实其母系遗传等位基因上发生了一个新发的CDKN1C变异，并排除了其他遗传病因。这些发现不仅扩展了BWSp的概念，还突出了等位基因起源分析在非典型表现病例中的潜在价值。
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