Clinical delineation of SETBP1 haploinsufficiency disorder
Clinical delineation of SETBP1 haploinsufficiency disorder
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DOI：
10.1038/s41431-021-00888-9
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发表时间：
2021-04-19
影响因子：
5.2
通讯作者：
van Bon, Bregje W.
中科院分区：
文献类型：
--
作者：
Jansen, Nadieh A.;Braden, Ruth O.;van Bon, Bregje W.
SETBP 1单倍不足障碍（MIM#616078）是由染色体18q12.3上的SETBP 1单倍不足引起的，但尚未对这种单基因综合征的主要特征进行任何系统评价，评估遗传率和表达率。我们描述了第一个全面的研究，以描绘相关的临床表型，从34个人，包括24个新的情况下，所有这些人都有一个SETBP 1功能丧失变异或单一（编码）基因缺失，分子诊断确认的结果。最常报告的临床特征包括轻度运动发育迟缓、言语障碍、智力残疾、张力减退、视力障碍、注意力/集中力缺陷和多动。虽然在某些面部特征上有轻微的重叠，但这种疾病不会导致独特的可识别的面部完形。除了提供对SETBP 1单倍不足疾病临床谱的深入了解外，本报告还为患者管理提出了护理建议。
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.