Many neurodevelopmental disorders are caused by the presence of CNVs. Chromosome microarray technology is widely used to accurately detect CNVs. We report the case of a male, aged 3 years, presenting with delayed psychomotor development, generalized hypotonia, encephalopathy, delayed myelination in the central nervous system, and poor motor coordination. The array CGH revealed an interstitial deletion of chromosome 19q13.2 with a size of 88.8 kb involving 3 OMIM genes: RABAC1, ARHGEF1, and ATP1A3. Heterozygous mutations in the ATP1A3 gene are associated with delayed psychomotor development, alternating hemiplegia of childhood type 2 (AHC2), dystonia type 12, and cerebellarataxia-areflexia–pes cavus-optic atrophy-sensorineural hearing loss syndrome, also called CAPOS syndrome. The phenotypic expression of partial ATP1A3 deletion is, however, poorly described in the literature. The deletion was confirmed by MLPA, and we identified a hitherto undescribed novel deletion of exons 3b–21 of the ATP1A3 gene. Our data suggest that the deletion of the ATP1A3 gene is a causative factor of the AHC2 phenotype in the patient.
Mol Syndromol

中文翻译：

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一个 88.8-kb 的 19q13.2 新缺失，包括在精神运动发育迟缓、全身性张力减退和大头畸形患者中通过阵列 CGH 检测到的 ATP1A3 基因

许多神经发育障碍是由 CNV 的存在引起的。染色体微阵列技术被广泛用于准确检测 CNV。我们报告了一例 3 岁男性的病例，表现为精神运动发育迟缓、全身张力减退、脑病、中枢神经系统髓鞘形成延迟和运动协调性差。阵列 CGH 揭示了染色体 19q13.2 的间质缺失，大小为 88.8 kb，涉及 3 个 OMIM 基因：RABAC1、ARHGEF1和ATP1A3。ATP1A3 中的杂合突变基因与精神运动发育迟缓、儿童 2 型交替性偏瘫 (AHC2)、12 型肌张力障碍和小脑共济失调-无反射-pes cavus-视神经萎缩-感音神经性听力损失综合征，也称为 CAPOS 综合征有关。然而，部分ATP1A3缺失的表型表达在文献中的描述很少。MLPA 证实了该缺失，我们发现了迄今为止未描述的ATP1A3基因外显子 3b-21 的新缺失。我们的数据表明ATP1A3基因的缺失是患者 AHC2 表型的致病因素。
摩尔综合征