一个患有智力障碍的中国家庭中的新型SETBP1突变
Novel SETBP1 mutation in a chinese family with intellectual disability.
作者信息
Wang Le, Wang Xu-Dong, Yang Bo, Wang Xue-Meng, Peng Yu-Qian, Tan Hang-Jing, Xiao Hong-Mei
机构信息
School of Basic Medical Science, Hunan University of Medicine, Huaihua, Hunan, China.
Center for System Biology, Data Sciences, and Reproductive Health, School of Basic Medical Science, Central South University, Changsha, Hunan, China.
出版信息
BMC Med Genomics. 2023 Oct 5;16(1):233. doi: 10.1186/s12920-023-01649-x.
BACKGROUND
Intellectual disability (ID) is characterized by an IQ < 70, which implies below-average intellectual function and a lack of skills necessary for daily living. ID may occur due to multiple causes, such as metabolic, infectious, and chromosomal causes. ID affects approximately 1-3% of the population; however, the cause can be identified in only 25% of clinical patients.
METHODS
To find the cause of genetic ID in a family, we performed whole-exome sequencing and Sanger sequencing to confirm the presence of a SETBP1 variant and real-time quantitative polymerase chain reaction to detect SETBP1 expression in the proband and normal controls.
RESULTS
A novel variant, c.942_943insGT (p. Asp316TrpfsTer28), was found in SETBP1. Furthermore, we observed that SETBP1 expression in patients was only 20% that of normal controls (P < 0.05).
CONCLUSION
A heterozygous variant in SETBP1 associated with ID was found. This report provides further evidence for its genetic basis and support for clinical genetic diagnosis.
背景
智力障碍（ID）的特征是智商低于70，这意味着智力功能低于平均水平且缺乏日常生活所需技能。ID可能由多种原因引起，如代谢、感染和染色体原因。ID影响约1%至3%的人口；然而，仅25%的临床患者能够明确病因。
方法
为了找出一个家族中遗传性ID的病因，我们进行了全外显子组测序和桑格测序以确认SETBP1变异的存在，并进行实时定量聚合酶链反应以检测先证者和正常对照中SETBP1的表达。
结果
在SETBP1中发现了一个新的变异，c.942_943insGT（p.Asp316TrpfsTer28）。此外，我们观察到患者中SETBP1的表达仅为正常对照的20%（P<0.05）。
结论
发现了与ID相关的SETBP1杂合变异。本报告为其遗传基础提供了进一步证据，并为临床遗传诊断提供了支持。
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