Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genopath Centre, Faculty of Medicine and Pharmacy of Rabat, University Mohammed V of Rabat, Rabat, Morocco.
Department of Medical Genetics, National Institute of Health, Rabat, Morocco.
Mol Biol Rep. 2024 Aug 3;51(1):885. doi: 10.1007/s11033-024-09829-3.
Sotos syndrome is a rare and complex genetic disorder caused by haploinsufficiency of the NSD1 gene. This syndrome is characterized by rapid early childhood growth, distinct facial features, a learning disability, and multiple other developmental and behavioral challenges.
In this work, we describe four Moroccan patients with variable clinical presentations of Sotos syndrome, in whom we identified four novel NSD1 monoallelic pathogenic variants by conducting targeted Next Generation Sequencing. Genetic testing allowed us to provide a precise medical diagnosis to our patients and tailor interventions to each patient's needs.
Being the first work describing a series of Moroccan patients with this syndrome, this case series contributes to the growing body of literature on Sotos syndrome and provides valuable insights into the clinical and molecular characteristics of this rare disorder.
Sotos 综合征是一种罕见且复杂的遗传性疾病，由 NSD1 基因单等位基因功能缺失引起。该综合征的特征是婴幼儿早期快速生长、独特的面部特征、学习障碍以及多种其他发育和行为挑战。
在这项工作中，我们描述了 4 名具有不同临床表现的摩洛哥 Sotos 综合征患者，通过靶向下一代测序，我们在他们身上发现了 4 种新的 NSD1 单等位基因致病性变异。基因检测使我们能够为患者提供准确的医学诊断，并根据每位患者的需求定制干预措施。
作为首例描述该综合征的摩洛哥患者系列研究，本病例系列丰富了 Sotos 综合征的文献资料，并深入了解了这种罕见疾病的临床和分子特征。
