Pathogenic variants of the GATAD2B gene (1q21.3) are linked to intellectual disability autosomal dominant type 18 (MRD18; MIM 615074), characterized by dysmorphic features, psychomotor and language delay. We present an 11-year-old female patient with intellectual disability and typical clinical characteristics of MRD18. Chromosomal microarray analysis (CMA) revealed a novel CNV, approximately 200 kb in size and showed that the INTS3 and SLC27A3 genes are completely deleted along with the first 10 exons of the GATAD2B gene. INTS3 encodes the integrator complex subunit 3 and is part of the complex that maintains genome stability; SLC27A3 encodes a fatty acid transporter and has been associated with autism spectrum disorder. GATAD2B haploinsufficiency is associated with the phenotype. Furthermore, the girl had other clinical characteristics not previously described, such as emotional instability, calf hypotrophy, hypoplastic digit pads, tapered thumbs, and anterior earlobe crease. This study highlights the importance of the phenotype-genotype correlation using molecular diagnostic techniques, such as CMA, and its impact on precise diagnosis, treatment, prognosis, and genetic counseling for patients and their families.

中文翻译：

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导致智力障碍常染色体显性类型18的GATAD2B基因微缺失：病例报告和文献综述。

GATAD2B基因（1q21.3）的致病变异与智障常染色体显性18型（MRD18; MIM 615074）相关，其特征是畸形，精神运动和语言延迟。我们介绍了一名11岁的女性患者，该患者患有智力障碍和MRD18的典型临床特征。染色体微阵列分析（CMA）显示了一个新的CNV，大小约为200 kb，并显示INTS3和SLC27A3基因与GATAD2B基因的前10个外显子一起被完全删除。INTS3编码整合子复合物亚基3，是维持基因组稳定性的复合物的一部分。SLC27A3编码脂肪酸转运蛋白，并已与自闭症谱系障碍相关。GATAD2B单倍型不足与该表型有关。此外，该女孩还具有其他先前未曾描述的临床特征，例如情绪不稳定，小腿萎缩，指骨发育不全，拇指变细和前耳垂折痕。这项研究强调了使用分子诊断技术（例如CMA）进行表型与基因型关联的重要性，以及其对患者及其家人的精确诊断，治疗，预后和遗传咨询的影响。