Velinov Milen
George A. Jervis Clinic, NYS Institute for Basic Research in Developmental Disabilities (IBR), Staten Island, NY, United States.
Front Cell Neurosci. 2019 Feb 19;13:57. doi: 10.3389/fncel.2019.00057. eCollection 2019.
The development of advanced technology for microarray-based chromosomal studies helped discover increased prevalence of genomic copy number variants (CNVs) in individuals with autism spectrum disorder (ASD). Chromosomal microarray analysis (CMA) is now an important tool for clinical investigations in patients with ASD. While this technology helps identify high proportion of CNV positive individuals among patients with autism, the clinical interpretation of such genomic rearrangements is often challenged by inconsistent genotype-phenotype correlations. Possible explanations of such inconsistencies may involve complex interactions of potentially pathogenic CNV with additional (secondary) CNVs or single nucleotide variants (SNVs). Other involved factors may include gender-specific effects or environmental contributions. Development of risk models for interpreting such complex interactions may be necessary in order to provide better informed genetic counseling to the affected families.
基于微阵列的染色体研究的先进技术的发展，有助于发现自闭症谱系障碍（ASD）个体中基因组拷贝数变异（CNV）的患病率增加。染色体微阵列分析（CMA）现在是ASD患者临床研究的重要工具。虽然这项技术有助于在自闭症患者中识别出高比例的CNV阳性个体，但这种基因组重排的临床解释常常受到基因型-表型相关性不一致的挑战。这种不一致的可能解释可能涉及潜在致病性CNV与其他（继发性）CNV或单核苷酸变异（SNV）的复杂相互作用。其他相关因素可能包括性别特异性影响或环境因素。为了解释这种复杂的相互作用，开发风险模型可能是必要的，以便为受影响的家庭提供更明智的遗传咨询。
