Diversity and Classification of Genetic Variations in Autism Spectrum Disorder

被引:18
作者
Kereszturi, Eva [1 ]
机构
[1] Semmelweis Univ, Dept Mol Biol, H-1085 Budapest, Hungary
关键词
autism; ASD; genetic variation; SNV; CNV; chromosomal abnormalities; mutation; polymorphism; DISABILITIES MONITORING NETWORK; COPY NUMBER VARIATION; AGED; 8; YEARS; SEX-CHROMOSOME ANEUPLOIDY; UNITED-STATES; 11; SITES; DE-NOVO; KLINEFELTER SYNDROME; FUNCTIONAL IMPACT; RISK-FACTORS;
D O I
10.3390/ijms242316768
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Autism spectrum disorder (ASD) is a neurodevelopmental condition with symptoms that affect the whole personality and all aspects of life. Although there is a high degree of heterogeneity in both its etiology and its characteristic behavioral patterns, the disorder is well-captured along the autistic triad. Currently, ASD status can be confirmed following an assessment of behavioral features, but there is a growing emphasis on conceptualizing autism as a spectrum, which allows for establishing a diagnosis based on the level of support need, free of discrete categories. Since ASD has a high genetic predominance, the number of genetic variations identified in the background of the condition is increasing exponentially as genetic testing methods are rapidly evolving. However, due to the huge amount of data to be analyzed, grouping the different DNA variations is still challenging. Therefore, in the present review, a multidimensional classification scheme was developed to accommodate most of the currently known genetic variants associated with autism. Genetic variations have been grouped according to six criteria (extent, time of onset, information content, frequency, number of genes involved, inheritance pattern), which are themselves not discrete categories, but form a coherent continuum in line with the autism spectrum approach.
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页数:20
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