Tapia Yessica Yesenia, Ciaccio Claudia, Bacınoğlu Merve Begüm, D'Arrigo Stefano, Sciacca Francesca Luisa
Laboratory of Cytogenetic, Service of Laboratory Medicine, Department of Diagnostic and Technology, Fondazione I. R. C. C. S. Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Unit of Infantile Neuropsychiatry, Fondazione I. R. C. C. S. Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Genes (Basel). 2025 May 13;16(5):571. doi: 10.3390/genes16050571.
Genetic studies have identified numerous candidate genes for neurodevelopmental disorders associated with intellectual disability (ID) and autism spectrum disorders (ASD). Some genetic anomalies are very rare or challenging to detect, making it essential to validate the presence of gene mutations or copy number variations in additional patients with similar clinical phenotypes. : Case reports play a crucial role in this process by validating rare variants in phenotypically matched patients, shedding light on novel candidate genes linked to these disorders. : Patients with ID and ASD underwent neurological examinations, brain magnetic resonance imaging (MRI), sleep and wake electroencephalogram (EEG), neuropsychological evaluations, and laboratory tests including molecular analysis for fragile-X syndrome and array comparative genomic hybridization (aCGH). : We observed a patient with ID and ASD who carried a microdeletion in Xq22.1 that affects only exon 1 and intron 1 of the Nuclear RNA Export Factor 5 () gene. The patient's phenotypic features overlap with those of the only four previously reported cases of variations involving the same gene. : Our findings suggest that may play a role in neurodevelopmental disorders and should be considered in the spectrum of X-linked ID associated with ASD.
基因研究已经确定了许多与智力残疾（ID）和自闭症谱系障碍（ASD）相关的神经发育障碍候选基因。一些基因异常非常罕见或难以检测，因此在其他具有相似临床表型的患者中验证基因突变或拷贝数变异的存在至关重要。病例报告在这一过程中发挥着关键作用，通过在表型匹配的患者中验证罕见变异，揭示与这些疾病相关的新候选基因。患有ID和ASD的患者接受了神经学检查、脑磁共振成像（MRI）、睡眠和觉醒脑电图（EEG）、神经心理学评估以及实验室检查，包括脆性X综合征的分子分析和阵列比较基因组杂交（aCGH）。我们观察到一名患有ID和ASD的患者，其Xq22.1存在微缺失，仅影响核RNA输出因子5（）基因的外显子1和内含子1。该患者的表型特征与之前仅有的4例涉及同一基因变异的报道病例的特征重叠。我们的研究结果表明，可能在神经发育障碍中起作用，并且在与ASD相关的X连锁ID谱系中应予以考虑。
