SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery Wheel

[摘要] 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.

[学科分类] 基础医学

[关键词] Epigenetic machinery;WES;PRMT7;SBIDDS syndrome