CTNNB1 （C . 2215a >C, p.Met739Leu）一种新的从头杂合错义变异（C . 2215a >C, p.Met739Leu）潜在神经发育障碍伴痉挛性双瘫和视力缺陷（NEDSDV）一例报告。

IF 0.6 Q3 MEDICINE, GENERAL & INTERNAL

Clinical Case Reports Pub Date : 2026-10-16 eCollection Date: 2026-10-01 DOI:10.1002/ccr3.73743

Omar Jamal Ibrahim, Ali Rajabi, Mortaza Bonyadi, Mohammad Barzegar

引用次数: 0

摘要

我们报告了一名7岁男性，由于一种新的可能致病的CTNNB1变异而出现小头畸形、痉挛、斜视、畸形、自闭症行为和中度ID （C . 2215a >C, p.Met739Leu）。这个病例强调了全外显子组测序在早期发现罕见的单基因神经发育障碍的诊断效用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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A Novel De Novo Heterozygous Missense Variant in CTNNB1 (c.2215A>C, p.Met739Leu) Underlying Neurodevelopmental Disorder With Spastic Diplegia and Visual Defects (NEDSDV): A Case Report.

We report a 7-year-old male with microcephaly, spasticity, strabismus, dysmorphism, autistic behaviors, and moderate ID due to a novel de novo likely pathogenic CTNNB1 variant (c.2215A>C, p.Met739Leu). This case underscores Whole Exome Sequencing's diagnostic utility for early detection of rare monogenic neurodevelopmental disorders.

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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).