PACS2, PACS1, and VACTERL: A Clinical Overlap.

IF 0.9 4区医学 Q4 GENETICS & HEREDITY

Molecular Syndromology Pub Date : 2025-02-01 Epub Date: 2024-08-07 DOI:10.1159/000539473

Hannah Massey, Stephen Tennant, John Dean

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引用次数: 0

Abstract

Introduction: Whole-exome sequencing has led to the discovery of new genes involved in developmental delay. Two of these are the evolutionary linked proteins phosphofurin acidic cluster sorting protein 1 (PACS1) and phosphofurin acidic cluster sorting protein 2 (PACS2), which function as metabolic switches. We present a case of a patient with the previously described PACS2 c.624G>A; p.Glu209Lys variant, with distinct clinical features, suggesting an overlap between the two conditions.

Case presentation: The patient presented with infantile epilepsy, developmental delay, and cerebellar hypoplasia previously described with PACS2. However, he also had novel features not noted in the literature before; this included anal atresia, tetralogy of Fallot, and vertebral abnormalities. This constellation of features had given him a label of VACTERL.

Conclusion: Cardiac abnormalities are more commonly seen in PACS1 variants, and this case strengthens the phenotypic similarities between the two conditions. We also explore the genetic mechanisms causing the cardiac and anal anomalies seen in our patient and suggest the PACS2 disease spectrum should be expanded.

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PACS2， PACS1和VACTERL：临床重叠。

引言：全外显子组测序已经发现了与发育迟缓有关的新基因。其中两种是作为代谢开关的进化连锁蛋白磷酸氟酸簇分类蛋白1 （PACS1）和磷酸氟酸簇分类蛋白2 （PACS2）。我们提出一个病例的病人与先前描述的PACS2 c.624G> a；p.Glu209Lys变体，具有明显的临床特征，提示两种情况之间存在重叠。病例表现：患者表现为婴儿癫痫、发育迟缓和小脑发育不全，先前用PACS2描述。然而，他也有以前文学中没有注意到的新颖特点；这包括肛门闭锁、法洛四联症和椎体异常。这一系列的特征给了他一个VACTERL的标签。结论：心脏异常在PACS1变异体中更为常见，本病例加强了两种情况的表型相似性。我们还探讨了导致本例患者心脏和肛门异常的遗传机制，并建议扩大PACS2疾病的范围。

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.