一名患有非特异性发育迟缓儿童的TBL1XR1基因新发缺失，支持了该基因与智力残疾有关。
De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability.
作者信息
Tabet Anne-Claude, Leroy Camille, Dupont Céline, Serrano Emilie, Hernandez Karen, Gallard Jennifer, Pouvreau Nathalie, Gadisseux Jean-François, Benzacken Brigitte, Verloes Alain
机构信息
Department of Genetics, APHP-Robert DEBRE University Hospital, Paris VII-Denis Diderot Medical School and INSERM UMR 1141 "PROTECT", Paris, France.
出版信息
Am J Med Genet A. 2014 Sep;164A(9):2335-7. doi: 10.1002/ajmg.a.36619. Epub 2014 May 28.
We report on a 6-year-old child with a de novo 1.6 Mb deletion in the 3q26.31q26.32 region identified by SNP array, involving only one relevant gene: TBL1XR1. The girl shows non-specific, mild to moderate intellectual deficiency but no autistic behavior. Point mutations in TBL1XR1 have recently been implicated in three patients with intellectual disability (ID) and autistic features. Our report supports that haploinsufficiency for TBL1XR1 could be implicated in non-ASD autosomal dominant ID.
我们报告了一名6岁儿童，通过单核苷酸多态性（SNP）芯片检测发现其3q26.31q26.32区域存在一个1.6 Mb的新发缺失，该区域仅涉及一个相关基因：TBL1XR1。该女孩表现出非特异性的轻度至中度智力缺陷，但无自闭症行为。最近有研究表明，TBL1XR1的点突变与三名患有智力障碍（ID）和自闭症特征的患者有关。我们的报告支持TBL1XR1单倍剂量不足可能与非自闭症谱系障碍（ASD）的常染色体显性ID有关。
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