Sebastiano Aleo, Lidia Pezzani, Donatella Milani, Laura Pezzoli, Paola Marchisio, Maria Iascone
{"title":"SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery Wheel.","authors":"Sebastiano Aleo, Lidia Pezzani, Donatella Milani, Laura Pezzoli, Paola Marchisio, Maria Iascone","doi":"10.1159/000524844","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Case presentation: </strong>Here, we report a new case of short stature, brachydactyly, intellectual developmental disability, and seizures (SBIDDS) syndrome with a severe ocular phenotype and hypogonadism.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"13 6","pages":"543-550"},"PeriodicalIF":0.9000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9843552/pdf/msy-0013-0543.pdf","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Molecular Syndromology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1159/000524844","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
Abstract
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.
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.
京公网安备 11010802042870号
京ICP备2023020795号-1
分享
求助内容：
应助结果提醒方式：
扫码关注我们
