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&gt;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.

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

Molecular Syndromology

《分子综合征》发表关于常见和罕见遗传综合征的高质量研究文章、简短报告和评论，旨在通过分子见解增加临床理解。特别感兴趣的主题是遗传综合征的分子基础、基因型-表型相关性、自然史、疾病管理策略和基于分子发现的新治疗方法。对模型系统的研究也受到欢迎，特别是当它明显与人类遗传学相关时。通过对当前主题的高质量评论，该杂志旨在促进将研究结果转化为临床环境，同时促进对临床相关问题的进一步研究。该杂志不仅针对医学遗传学家和基础生物医学研究人员，还针对处理遗传综合征的临床医生。该杂志拥有来自三大洲的四位副主编和一个广泛的国际编辑委员会，欢迎投稿，涵盖来自世界各地的最新研究。

The journal "Molecular Syndromology" publishes high-quality research articles, brief reports, and reviews on common and rare genetic syndromes, aiming to enhance clinical understanding through molecular insights. Topics of particular interest include the molecular basis of genetic syndromes, genotype-phenotype correlations, natural history, disease management strategies, and new therapeutic approaches based on molecular discoveries. Research on model systems is also welcomed, especially when it is significantly related to human genetics. Through high-quality reviews on current topics, the journal aims to facilitate the translation of research findings into clinical settings while promoting further investigation into clinically relevant issues. The journal is not only targeted at medical geneticists and basic biomedical researchers but also welcomes submissions from clinicians dealing with genetic syndromes. It boasts four deputy editors from three continents and a broad international editorial board, inviting submissions of the latest research from around the world.

《Molecular Syndromology》期刊发表关于常见和罕见遗传综合征的高质量研究文章、简短报告和评论，旨在通过分子视角增强临床理解。特别关注的主题包括遗传综合征的分子基础、基因型-表型相关性、自然史、疾病管理策略以及基于分子发现的新治疗方法。对模型系统的研究也受到欢迎，尤其是那些与人类遗传学显著相关的研究。通过对当前主题的高质量评论，该杂志旨在促进研究成果向临床实践的转化，同时推动对临床相关问题的进一步研究。该杂志不仅面向医学遗传学家和基础生物医学研究人员，也欢迎处理遗传综合征的临床医生投稿。期刊拥有来自三大洲的四位副主编和一个广泛的国际编辑委员会，欢迎来自全球的最新研究投稿。

Category	Quartile
医学	4
医学, 遗传学	4

Screening for TSEN54 Variants in Egyptian Patients with Pontocerebellar Malformations

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Journal Info

Category	Quartile
GENETICS & HEREDITY	4