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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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.