亚当斯-奥利弗6型综合征新的DLL4错义和高精度蛋白质结构预测。

IF 0.6 Q3 MEDICINE, GENERAL & INTERNAL

Clinical Case Reports Pub Date : 2025-10-01 DOI:10.1002/ccr3.70933

Rodrigo Cabrera, Marlon Yesid Barrera Montañez, Sebastian Ramiro Gil-Quiñones, Adriana Motta Beltrán, Natalia Santiago-Tovar, Nora Contreras-Bravo, Dora Janeth Fonseca-Mendoza, Carlos Martin Restrepo, Adrien Morel

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引用次数: 0

摘要

亚当斯-奥利弗综合征（AOS）是一种罕见的疾病，典型描述为头皮顶点发育不全，皮肤和末端横肢缺陷。这种综合征经常被误诊，因为它的每一个特征都是分开的。通过全外显子组测序（WES）鉴定了DLL4中一种新的全新错义变异（c.998G>A, p.Cys333Tyr），使用AlphaFold和PremPS进行结构分析，通过破坏NOTCH1信号通路证实了其致病性，突出了人工智能驱动工具在变异解释中的作用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Novel De Novo DLL4 Missense and Highly Accurate Protein Structure Prediction in Adams–Oliver Type 6 Syndrome

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Novel De Novo DLL4 Missense and Highly Accurate Protein Structure Prediction in Adams–Oliver Type 6 Syndrome

Adams–Oliver syndrome (AOS) is a rare disease classically described with scalp vertex aplasia cutis and terminal transverse limb defects. This syndrome is frequently misdiagnosed by taking each feature of the disease separately. A novel de novo missense variant in DLL4 (c.998G>A, p.Cys333Tyr) was identified by Whole Exome Sequencing (WES), and structural analysis using AlphaFold and PremPS confirmed its pathogenicity by disrupting the NOTCH1 signaling pathway, highlighting the power of AI-driven tools in variant interpretation.

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来源期刊

Clinical Case Reports MEDICINE, GENERAL & INTERNAL-

自引率

14.30%

发文量

1268

审稿时长

13 weeks

期刊介绍： Clinical Case Reports is different from other case report journals. Our aim is to directly improve global health and increase clinical understanding using case reports to convey important best practice information. We welcome case reports from all areas of Medicine, Nursing, Dentistry, and Veterinary Science and may include: -Any clinical case or procedure which illustrates an important best practice teaching message -Any clinical case or procedure which illustrates the appropriate use of an important clinical guideline or systematic review. As well as: -The management of novel or very uncommon diseases -A common disease presenting in an uncommon way -An uncommon disease masquerading as something more common -Cases which expand understanding of disease pathogenesis -Cases where the teaching point is based on an error -Cases which allow us to re-think established medical lore -Unreported adverse effects of interventions (drug, procedural, or other).