Department of Pediatrics, The University of Oklahoma Health Sciences Center, Oklahoma City, USA.
Am J Med Genet A. 2011 Jun;155A(6):1374-8. doi: 10.1002/ajmg.a.33769. Epub 2011 May 12.
Haploinsufficiency of the NSD1 gene due to 5q35 microdeletions or intragenic mutations is the major cause of Sotos syndrome characterized by generalized overgrowth, large hands and feet with advanced bone age, craniofacial dysmorphic features, learning disability, and possible susceptibility to tumors. Here, we report on a 14-month-old boy with a reverse phenotype of Sotos syndrome due to the reciprocal duplication of the 5q35.3 region, including the NSD1 gene, detected by array CGH. The phenotype includes delayed bone age, microcephaly, seizures, and failure to thrive. Our case suggests that the gene dosage effect of the NSD1 gene is the likely cause for the reversed phenotype of Sotos syndrome in this patient.
由于 NSD1 基因的 5q35 微缺失或基因内突变导致的单倍剂量不足是 Sotos 综合征的主要病因，其特征为全身性过度生长、手脚较大且骨龄提前、颅面畸形特征、学习障碍以及可能存在肿瘤易感性。在此，我们报告了一例由 NSD1 基因所在的 5q35.3 区域的相互重复导致的 14 月龄男孩，该区域包含 NSD1 基因，通过 array CGH 检测到。表型包括骨龄延迟、小头畸形、癫痫发作和生长不良。我们的病例表明，NSD1 基因的基因剂量效应可能是该患者 Sotos 综合征反转表型的原因。
