13例病例支持印迹中心1 （IC1）微缺失在Beckwith-Wiedemann综合征中的临床意义。

IF 4.8 2区医学 Q1 GENETICS & HEREDITY

Clinical Epigenetics Pub Date : 2025-04-29 DOI:10.1186/s13148-025-01873-5

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

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引用次数: 0

摘要

大多数贝克维斯-魏德曼综合征（BWS）病例是散发的；然而，印迹中心1 （IC1）微缺失被认为是家族性BWS的罕见原因，约有20例报道。我们报告了来自9个家族的13例IC1微缺失。反复出现1.4 kb、1.8 kb和2.2 kb的缺失。IC1高甲基化在所有家族中都被发现，我们建立了IC1微缺失与高甲基化之间的统计学显著关系（OR: 108.17, p = 2.76e-13）。本研究证实了IC1微缺失是家族性BWS的一个原因，扩展了对其分子机制的理解，并支持了IC1微缺失的可能致病性临床分类。

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

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.

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来源期刊

Clinical Epigenetics ONCOLOGY-

自引率

5.30%

发文量

150

期刊介绍： Clinical Epigenetics, the official journal of the Clinical Epigenetics Society, is an open access, peer-reviewed journal that encompasses all aspects of epigenetic principles and mechanisms in relation to human disease, diagnosis and therapy. Clinical trials and research in disease model organisms are particularly welcome.