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孤立的横向过度生长 - 表型谱和分子变化

Sakshi Yadav¹, R C Madhumita², Neerja Gupta²

¹Faith Diagnostic and Fetal Centre, Mohali, India.

Indian journal of pediatrics

|October 19, 2024

概括

孤立的横向过度生长 (ILO) 可能代表贝克威斯-维德曼谱的轻微形式. 分子分析显示大约三分之一的患者有甲基化异常或单亲异构,影响了随访策略.

科学领域:

遗传学是一个遗传学.
发展生物学发展生物学
内分泌学在内分泌学.

背景情况:

孤立横向过度生长 (ILO) 带来了诊断挑战,经常与贝克威斯-维德曼综合征 (BWS) 和银拉塞尔综合征 (SRS) 等疾病重叠.
了解ILO的分子基础对于准确的诊断和管理至关重要.

研究的目的:

为了研究ILO患者的11p15.5位点的分子异常.
为了将遗传发现与临床表现相关联.

主要方法:

对甲基化敏感的多重结合依赖探头放大 (MS-MLPA) 在32名ILO患者身上进行.
短串联重复 (STR) 标记分析用于检测单亲异构 (UPD).
当MS-MLPA结果正常时,进行了循环素依赖性激酶抑制剂1C (CDKN1C) 基因测序和全外体测序 (WES).

主要成果:

在28% (9/32) 的患者中,MS-MLPA发现了甲基化异常.
在9%的病例中发现了UPD. 异常包括印记中心 (IC) 的甲基化增加/损失.
在MS-MLPA结果正常的患者中,WES没有显示出致病变体. 临床特征有时不完全符合SRS标准,尽管分子发现.

结论:

国际劳工组织可以被认为是BWS频谱极端的轻微表现.
大约三分之一的ILO病例表现出甲基化异常或UPD,需要仔细跟踪.
在ILO中的分子发现可能并不总是完全符合BWS或SRS的确立诊断标准.

关键词:

打印障碍打印障碍打印障碍打印障碍孤立的局部过度生长.在MLPA中,我们可以使用MLPA.甲基化甲基化甲基化

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