GATA zinc finger domain-containing 2B (GATAD2B) encodes p66beta, a subunit of transcription repressor complex methyl-CpG-binding protein-1 histone deacetylase complex/nucleosome remodelling and deacetylase, and mediates gene silencing. Pathogenic variants in GATAD2B are known to cause mental retardation, autosomal dominant 18, characterized by intellectual disability, limited speech development, generalized hypotonia and dysmorphism. Till date, 17 cases of GATAD2B-related intellectual disability, resulting either from loss-of-function variants in GATAD2B or microdeletions spanning GATAD2B, have been reported. Singleton exome sequencing was performed for index patient. The pathogenic variant identified was validated and segregation analysis was performed by Sanger sequencing. In this study, we report on an additional subject with GATAD2B-related intellectual disability identified through whole exome sequencing. The clinically unaffected father harboured the pathogenic variant in a mosaic state. We review the existing phenotypic and genotypic information for the individuals with this condition. GATAD2B-related intellectual disability is a rare condition with subtle yet recognizable clinical features. In this article, we highlight a consistent clinical profile of subjects with GATAD2B-related intellectual disability.

中文翻译：

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与GATAD2B相关的智力障碍，归因于父母的马赛克和文献复习。

含GATA锌指结构域的2B（GATAD2B）编码p66beta（转录阻遏物复合物甲基CpG结合蛋白1组蛋白脱乙酰酶复合物/核小体重塑和脱乙酰酶的亚基）并介导基因沉默。已知GATAD2B中的致病变异会导致智力障碍，常染色体显性遗传18，其特征是智力残疾，语言发展受限，肌张力低下和畸形。迄今为止，已经报告了17例GATAD2B相关的智力残疾，这些病例是由于GATAD2B的功能丧失变异或跨越GATAD2B的微缺失引起的。对索引患者进行单例外显子组测序。通过Sanger测序验证鉴定出的病原体变异并进行分离分析。在这个研究中，我们报告了通过全外显子组测序鉴定出的GATAD2B相关智力障碍的另一主题。临床未受影响的父亲在镶嵌状态下携带病原体。我们审查了这种情况下个体的现有表型和基因型信息。GATAD2B相关的智力障碍是一种罕见疾病，具有微妙但可识别的临床特征。在本文中，我们重点介绍与GATAD2B相关的智力障碍的受试者的一致临床特征。GATAD2B相关的智力障碍是一种罕见疾病，具有微妙但可识别的临床特征。在本文中，我们重点介绍与GATAD2B相关的智力障碍的受试者的一致临床特征。GATAD2B相关的智力障碍是一种罕见疾病，具有微妙但可识别的临床特征。在本文中，我们重点介绍与GATAD2B相关的智力障碍的受试者的一致临床特征。