Atterton Cooper, Trew Isabella, Cale Jessica M, Aung-Htut May T, Grens Kerry, Kiernan Jill, Delagrammatikas Christal G, Piper Michael
The School of Biomedical Sciences, The University of Queensland, Brisbane, QLD 4072, Australia.
Personalised Medicine Centre, Health Futures Institute, Murdoch University, Murdoch, WA 6150, Australia.
Dis Model Mech. 2025 May 1;18(5). doi: 10.1242/dmm.052300. Epub 2025 May 12.
Overgrowth-intellectual disability (OGID) syndromes encompass a group of rare neurodevelopmental disorders that frequently share common clinical presentations. Although the genetic causes of many OGID syndromes are now known, we lack a clear mechanistic understanding of how such variants disrupt developmental processes and ultimately culminate in overgrowth and neurological symptoms. Patient advocacy groups, such as the Overgrowth Syndromes Alliance (OSA), are mobilising patients, families, clinicians and researchers to work together towards a deeper understanding of the clinical needs of patients with OGID, as well as to understand the fundamental biology of the relevant genes, with the goal of developing treatments. In this Review, we summarise three OGID syndromes encompassed by the OSA, namely Sotos syndrome, Malan syndrome and Tatton-Brown-Rahman syndrome. We discuss similarities and differences in the biology behind each disorder and explore future approaches that could potentially provide a way to ameliorate some of the unmet clinical needs of patients with OGID.
过度生长-智力障碍（OGID）综合征是一组罕见的神经发育障碍，通常具有共同的临床表现。尽管现在已知许多OGID综合征的遗传原因，但我们对这些变异如何破坏发育过程并最终导致过度生长和神经症状缺乏清晰的机制理解。患者倡导组织，如过度生长综合征联盟（OSA），正在动员患者、家庭、临床医生和研究人员共同努力，以更深入地了解OGID患者的临床需求，并了解相关基因的基础生物学，目标是开发治疗方法。在本综述中，我们总结了OSA涵盖的三种OGID综合征，即索托斯综合征、马兰综合征和塔顿-布朗-拉赫曼综合征。我们讨论了每种疾病背后生物学的异同，并探索未来可能为改善OGID患者一些未满足的临床需求提供途径的方法。
