Screening for TSEN54 Variants in Egyptian Patients with Pontocerebellar Malformations.

IF 0.9 4区医学 Q4 GENETICS & HEREDITY

Molecular Syndromology Pub Date : 2024-12-01 Epub Date: 2024-06-20 DOI:10.1159/000539364

Bayoumi A Emam, Mohamed S Abdel-Hamid, Maha Eid, Marian Girgis, Omar A Ragab, Maha S Zaki, Hassan El-Kiki, Sawsan Abdel-Hady, Ghada M H Abdel-Salam

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引用次数: 0

Abstract

Introduction: Pontocerebellar hypoplasia (PCH) represents a group of rare disorders with prenatal onset and time-dependent loss of brain parenchyma, predominantly affecting the cerebellum and pons with variable involvement of supratentorial structures. Radiologically and pathologically, they are characterized by small cerebellum and pons. Our study aimed to screen for the TSEN54 gene variants in Egyptian patients with PCH for proper counseling and to describe the brain MRI and the clinical phenotype and compare, them to those described in the literature.

Methods: Thirty patients from thirty Egyptian families with a diagnosis of PCH based on neuroimaging findings were selected. Clinical evaluation, radiological findings, and genetic investigations were done for all patients.

Results: The common missense variant c.919G>T (p.A307S) was identified in only 6 patients from six unrelated families (6/30; 20%) who showed different degrees of pontocerebellar malformations on brain imaging.

Conclusion: The presence of a dragonfly/butterfly-like pattern in the coronal section of the cerebellum recommends genetic testing of TSEN54 as a first step. For negative cases, whole-exome sequencing is essential to reach a definite diagnosis and determine the etiology.

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埃及桥小脑畸形患者TSEN54变异的筛查

摘要：桥小脑发育不全（PCH）是一组罕见的疾病，以产前发病和时间依赖性脑实质丧失为特征，主要影响小脑和桥脑，并伴有幕上结构的不同受累。放射学和病理学表现为小脑和脑桥小。我们的研究旨在筛选埃及PCH患者的TSEN54基因变异，以进行适当的咨询，并描述脑MRI和临床表型，并将其与文献中描述的进行比较。方法：选择来自埃及30个家庭的30例经神经影像学检查诊断为PCH的患者。对所有患者进行临床评估、放射学检查和遗传学调查。结果：常见错义变异c.919G >t （p.A307S）仅在6个无亲缘关系家族的6例患者中检出(6/30；20%)，脑成像显示不同程度的桥小脑畸形。结论：小脑冠状区存在蜻蜓/蝴蝶样图案，建议首先对TSEN54进行基因检测。对于阴性病例，全外显子组测序是必不可少的，以达到明确的诊断和确定病因。

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

Molecular Syndromology Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

1.70

自引率

9.10%

发文量

期刊介绍： ''Molecular Syndromology'' publishes high-quality research articles, short reports and reviews on common and rare genetic syndromes, aiming to increase clinical understanding through molecular insights. Topics of particular interest are the molecular basis of genetic syndromes, genotype-phenotype correlation, natural history, strategies in disease management and novel therapeutic approaches based on molecular findings. Research on model systems is also welcome, especially when it is obviously relevant to human genetics. With high-quality reviews on current topics the journal aims to facilitate translation of research findings to a clinical setting while also stimulating further research on clinically relevant questions. The journal targets not only medical geneticists and basic biomedical researchers, but also clinicians dealing with genetic syndromes. With four Associate Editors from three continents and a broad international Editorial Board the journal welcomes submissions covering the latest research from around the world.