智力障碍中的突变。
The Mutation in Intellectual Disability.
机构信息
Department of Molecular Medicine, Faculty of Medical Sciences, Qazvin University of Medical Sciences, Qazvin, Iran.
Student Research Committee, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
出版信息
Arch Iran Med. 2021 Oct 1;24(10):747-751. doi: 10.34172/aim.2021.110.
BACKGROUND
Intellectual disability (ID) is a heterogonous disorder with complex etiology. The frequency of autosomal recessive inheritance defects was elevated in a consanguineous family.
METHODS
In this study, high-throughput DNA sequencing was performed in an Iranian consanguineous family with two affected individuals to find potential causative variants. Whole-exome sequencing was carried out on the proband and Sanger sequencing was implemented for validation of the likely causative variant in the family members.
RESULTS
A novel homozygous missense mutation (p.Arg122Trp) was detected in the gene.
CONCLUSION
has been recently introduced as a candidate ID and Parkinsonism causing gene. Our findings are in agreement with the clinical spectrum of mutations; however, our affected individuals suffer from ID manifestations.
背景
智力障碍（ID）是一种具有复杂病因的异质性疾病。常染色体隐性遗传缺陷的频率在一个近亲结婚的家庭中升高。
方法
在这项研究中，对一个有两个受影响个体的伊朗近亲结婚家庭进行了高通量 DNA 测序，以寻找潜在的致病变异。对先证者进行全外显子组测序，对家系成员中的可能致病变异进行 Sanger 测序验证。
结果
在 基因中发现了一个新的纯合错义突变（p.Arg122Trp）。
结论
最近被引入为候选 ID 和引起帕金森病的基因。我们的发现与 突变的临床谱一致；然而，我们的受影响个体表现出 ID 症状。
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