Beckwith-Wiedermann综合征伴非典型并发症的新发CDKN1C变异。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2025-05-28 DOI:10.1038/s41439-025-00316-0

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

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引用次数: 0

摘要

贝克维斯-维德曼谱系（BWSp）是一种基因组印记疾病，具有广泛的临床特征。在这里，我们报告了一名患有BWSp和非典型特征的婴儿，其长读测序证实了发生在母体遗传等位基因上的新生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，而且突出了等位基因起源分析在非典型病例中的潜在价值。

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De novo CDKN1C variant in Beckwith-Wiedermann spectrum with atypical complications.

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.

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来源期刊

Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

13 weeks