Istituto di Medicina Genomica, Università Cattolica del Sacro Cuore, Rome, Italy; Fondazione Policlinico Universitario "A. Gemelli" IRCCS, UOC Genetica Medica, Rome, Italy.
MAGI EUREGIO, Bolzano, Italy.
Acta Biomed. 2020 Nov 9;91(13-S):e2020003. doi: 10.23750/abm.v91i13-S.10684.
Intellectual disability (ID) and autism spectrum disorders (ASD) are neurodevelopmental conditions that often co-exist and affect children from birth, impacting on their cognition and adaptive behaviour. Social interaction and communication ability are also severely impaired in ASD. Almost 1-3% of the population is affected and it has been estimated that approximately 30% of intellectual disability and autism is caused by genetic factors. The aim of this review is to summarize monogenic conditions characterized by intellectual disability and/or autism for which the causative genes have been identified.
We identified monogenic ID/ASD conditions through PubMed and other NCBI databases. Many such genes are located on the X chromosome (>150 out of 900 X-linked protein-coding genes), but at least 2000 human genes are estimated to be involved in ID/ASD. We selected 174 genes (64 X-linked and 110 autosomal) for an NGS panel in order to screen patients with ID and/or ASD, after fragile X syndrome and significant Copy Number Variants have been excluded.
Accurate clinical and genetic diagnosis is required for precise treatment of these disorders, but due to their genetic heterogeneity, most cases remain undiagnosed. Next generation sequencing technologies have greatly enhanced the identification of new genes associated with intellectual disability and autism, ultimately leading to the development of better treatment options.
智力障碍（ID）和自闭症谱系障碍（ASD）是神经发育障碍，通常同时存在，并影响从出生开始的儿童，影响他们的认知和适应行为。自闭症患者的社交互动和沟通能力也严重受损。大约有 1-3%的人受到影响，据估计，大约 30%的智力障碍和自闭症是由遗传因素引起的。本综述的目的是总结已确定致病基因的以智力障碍和/或自闭症为特征的单基因疾病。
我们通过 PubMed 和其他 NCBI 数据库确定了单基因 ID/ASD 疾病。许多此类基因位于 X 染色体上（>900 个 X 连锁蛋白编码基因中有 150 多个），但据估计，至少有 2000 个人类基因参与 ID/ASD。我们选择了 174 个基因（64 个 X 连锁和 110 个常染色体）用于 NGS 面板筛选，以筛选 ID 和/或 ASD 患者，排除脆性 X 综合征和显著拷贝数变异后。
需要进行准确的临床和遗传诊断，以精确治疗这些疾病，但由于其遗传异质性，大多数病例仍未得到诊断。下一代测序技术极大地提高了与智力障碍和自闭症相关的新基因的识别能力，最终为开发更好的治疗方法奠定了基础。
