SBIDDS综合征:表观遗传机械车轮的新辐条。

IF 0.9 4区医学 Q4 GENETICS & HEREDITY Molecular Syndromology Pub Date : 2023-01-01 DOI:10.1159/000524844

Sebastiano Aleo, Lidia Pezzani, Donatella Milani, Laura Pezzoli, Paola Marchisio, Maria Iascone

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引用次数: 0

摘要

简介:表观遗传机制的孟德尔疾病是一种越来越多的疾病，表现出几种重叠的临床特征，可能是由于表观基因组水平的共同异常，导致转录组水平的下游趋同。病例介绍:在这里，我们报告了一个新的病例矮小，短指，智力发育障碍，癫痫发作(SBIDDS)综合征伴有严重的眼部表型和性腺功能减退。结论:强调了与其他孟德尔疾病表观遗传机制的相似性和联系，证实了SBIDDS作为表观遗传机制车轮的新辐条的加入。

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SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery Wheel.

Introduction: Mendelian disorders of the epigenetic machinery are a growing group of disorders exhibiting several overlapping clinical features that are probably due to common abnormalities at the epigenomic level, which lead to downstream convergence at the transcriptomic level.

Case presentation: Here, we report a new case of short stature, brachydactyly, intellectual developmental disability, and seizures (SBIDDS) syndrome with a severe ocular phenotype and hypogonadism.

Conclusion: Similarities and connections with other mendelian disorders of the epigenetic machinery are highlighted, confirming SBIDDS' enrolment as a new spoke of the epigenetic machinery wheel.

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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.