Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Speech and Language, Murdoch Children's Research Institute, Victoria, Australia.
Eur J Hum Genet. 2021 Aug;29(8):1198-1205. doi: 10.1038/s41431-021-00888-9. Epub 2021 Apr 19.
SETBP1 haploinsufficiency disorder (MIM#616078) is caused by haploinsufficiency of SETBP1 on chromosome 18q12.3, but there has not yet been any systematic evaluation of the major features of this monogenic syndrome, assessing penetrance and expressivity. We describe the first comprehensive study to delineate the associated clinical phenotype, with findings from 34 individuals, including 24 novel cases, all of whom have a SETBP1 loss-of-function variant or single (coding) gene deletion, confirmed by molecular diagnostics. The most commonly reported clinical features included mild motor developmental delay, speech impairment, intellectual disability, hypotonia, vision impairment, attention/concentration deficits, and hyperactivity. Although there is a mild overlap in certain facial features, the disorder does not lead to a distinctive recognizable facial gestalt. As well as providing insight into the clinical spectrum of SETBP1 haploinsufficiency disorder, this reports puts forward care recommendations for patient management.
SETBP1 部分单体不足症（MIM#616078）是由于 18q12.3 染色体上 SETBP1 的部分单体不足引起的，但尚未对这种单基因综合征的主要特征进行系统评估，包括外显率和表现度。我们描述了首次全面研究以描绘相关的临床表型，该研究共纳入 34 名个体，包括 24 名新病例，所有个体均通过分子诊断证实存在 SETBP1 功能丧失变异或单个（编码）基因突变缺失。最常报告的临床特征包括轻度运动发育迟缓、言语障碍、智力障碍、肌张力低下、视力障碍、注意力/集中力缺陷和多动。尽管某些面部特征存在轻度重叠，但该疾病不会导致独特的可识别面部整体形态。本报告不仅深入了解了 SETBP1 部分单体不足症的临床谱，还为患者管理提出了护理建议。
