Dilated aorta in CNOT3 -related neurodevelopmental disorder: 'expanding' the phenotype.

IF 0.4 4区医学 Q4 GENETICS & HEREDITY

Clinical Dysmorphology Pub Date : 2024-10-01 Epub Date: 2024-09-04 DOI:10.1097/MCD.0000000000000495

Sandra Hui Min Lau, Lim Jiin Ying, Chew Yin Jasmine Goh, Jonathan Choo, Cristelle Chow, Simon Ling, Yong Hong Ng, Tan Yi Hua, Jing Xian Teo, Khi Pin Chua, Minning Chin, Weng Khong Lim, Saumya Shekhar Jamuar, Angeline Hwei Meeng Lai, Jeannette Lay Kuan Goh

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引用次数: 0

Abstract

Introduction: Neurodevelopmental disorders (NDDs) comprise conditions that emerge during the child's development and contribute significantly to global health and economic burdens. De novo variants in CNOT3 have been linked to NDDs and understanding the genotype-phenotype relationship between CNOT3 and NDDs will aid in improving diagnosis and management.

Methods: In this study, we report a case of a patient with CNOT3 -related NDD who presented with progressive aortic dilatation, a feature not reported previously.

Results: Our patient presented with intellectual disorder, dysmorphic facial features, and cardiac anomalies, notably progressive aortic dilatation - a novel finding in CNOT3 -related NDD. Genetic testing identified a de novo 6.3 kbp intragenic deletion in CNOT3 , providing a possible genetic basis for her condition.

Conclusion: This study presents the first case of CNOT3 -related NDD in Southeast Asia, expanding the phenotype to include progressive aortic dilatation and suggesting merit in cardiac surveillance of patients with CNOT3 -related NDD. It also emphasizes the importance of genetic testing in diagnosing complex NDD cases as well as reanalysis of 'negative' cases using advanced sequencing technologies to uncover potential hidden genetic etiologies in undiagnosed NDDs.

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CNOT3 相关神经发育障碍中的主动脉扩张：扩展 "表型。

导言：神经发育障碍（NDDs）是指在儿童发育过程中出现的病症，对全球健康和经济负担造成重大影响。CNOT3的去新变异与NDDs有关，了解CNOT3与NDDs之间的基因型-表型关系将有助于改善诊断和管理：在本研究中，我们报告了一例 CNOT3 相关 NDD 患者的病例，该患者表现为进行性主动脉扩张，这是之前未曾报道过的特征：我们的患者伴有智力障碍、面部畸形和心脏异常，尤其是进行性主动脉扩张--这是CNOT3相关NDD的一个新发现。基因检测发现，CNOT3基因内有一个6.3 kbp的去基因缺失，这为她的病情提供了可能的遗传基础：本研究介绍了东南亚首例 CNOT3 相关 NDD 病例，将表型扩展到包括进行性主动脉扩张，并建议对 CNOT3 相关 NDD 患者进行心脏监测。该研究还强调了基因检测在诊断复杂 NDD 病例中的重要性，以及利用先进的测序技术重新分析 "阴性 "病例以发现未确诊 NDD 中潜在的隐性遗传病因的重要性。

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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来源期刊

Clinical Dysmorphology 医学-遗传学

CiteScore

1.20

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Clinical Dysmorphology publishes succinct case reports on the etiology, clinical delineation, genetic mapping, and molecular embryology of birth defects. This journal covers such topics as multiple congenital anomaly syndromes - with particular emphasis on previously undescribed conditions, rare findings, ethnic differences in existing syndromes, fetal abnormalities, and cytogenetic aberrations that might give clues to the localization of developmental genes. Regular features include original, peer-reviewed articles, conference reports, book and software reviews, abstracts and summaries from the UK Dysmorphology Club, and literature summaries. Submitted articles undergo a preliminary review by the editor. Some articles may be returned to authors wihtout further consideration. Those being considered for publication will undergo further assessment and peer-review by the editors and those invited to do so from a reviewer pool.