The Genetics of Intellectual Disability

被引：27

作者：

Jansen, Sandra ^{[1
]}

Vissers, Lisenka E. L. M. ^{[1
]}

de Vries, Bert B. A. ^{[1
]}

机构：

[1] Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Human Genet, POBox 9101, NL-6500 HB Nijmegen, Netherlands

来源：

BRAIN SCIENCES | 2023年 / 13卷 / 02期

关键词：

intellectual disability; genetics; phenotype; genotype; next-generation sequencing; DE-NOVO MUTATIONS; FRAGILE-X-SYNDROME; CHROMOSOMAL REARRANGEMENTS; DEVELOPMENTAL DISORDER; EXOME; VARIANTS; GENES; PHENOTYPE; DIAGNOSIS; FAMILIES;

D O I：

10.3390/brainsci13020231

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Intellectual disability (ID) has a prevalence of similar to 2-3% in the general population, having a large societal impact. The underlying cause of ID is largely of genetic origin; however, identifying this genetic cause has in the past often led to long diagnostic Odysseys. Over the past decades, improvements in genetic diagnostic technologies and strategies have led to these causes being more and more detectable: from cytogenetic analysis in 1959, we moved in the first decade of the 21st century from genomic microarrays with a diagnostic yield of similar to 20% to next-generation sequencing platforms with a yield of up to 60%. In this review, we discuss these various developments, as well as their associated challenges and implications for the field of ID, which highlight the revolutionizing shift in clinical practice from a phenotype-first into genotype-first approach.

引用

页数：18

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