在真核生物中，精确的前mRNA处理（包括选择性剪接）对于执行复杂的蛋白质翻译过程是必不可少的。点突变（改变翻译的蛋白质序列）和同义突变（不改变翻译的蛋白质序列）都能够影响剪接过程。已知同义突变能够通过改变mRNA的稳定性、mRNA的二级结构、剪接过程和翻译动力学来影响基因表达。在高等真核生物中，精确的剪接被三个弱保守的顺式作用元件调节，即5'端和3'端剪接位点以及分支位点。许多其他的顺式作用元件（外显子/内含子剪接增强子和剪接抑制因子）和顺式作用剪接因子（丝氨酸和精氨酸丰富蛋白质和异质核糖核蛋白）也被发现能够增强或抑制剪接过程。同义突变出现在顺式作用元件中可以通过改变剪接因子对外显子剪接增强子或抑制子序列的结合模式来改变剪接过程，最终导致外显子跳跃、内含子保留和各种形式的选择性剪接，最终导致大范围的疾病的出现。本综述的重点是阐明同义突变的作用及其对异常剪接机制的影响。此外，本研究还强调了同义突变在癌症和X-linked和常染色体遗传病的异常剪接中的作用。版权所有©2022 Elsevier B.V.

In eukaryotes, precise pre-mRNA processing, including alternative splicing, is essential to carry out the intricate protein translation process. Both point mutations (that alter the translated protein sequence) and synonymous mutations (that do not alter the translated protein sequence) are capable of affecting the splicing process. Synonymous mutations are known to affect gene expression via altering mRNA stability, mRNA secondary structure, splicing processes, and translational kinetics. In higher eukaryotes, precise splicing is regulated by three weakly conserved cis-elements, 5' and 3' splice sites and the branch site. Many other cis-acting elements (exonic/intronic splicing enhancers and silencers) and trans-acting splicing factors (serine and arginine-rich proteins and heterogeneous nuclear ribonucleoproteins) have also been found to enhance or suppress the splicing process. The appearance of synonymous mutations in cis-acting elements can alter the splicing process by changing the binding pattern of splicing factors to exonic splicing enhancers or silencer motifs. This results in exon skipping, intron retention, and various other forms of alternative splicing, eventually leading to the emergence of a wide range of diseases. The focus of this review is to elucidate the role of synonymous mutations and their impact on abnormal splicing mechanisms. Further, this study highlights the function of synonymous mutation in mediating abnormal splicing in cancer and development of X-linked, and autosomal inherited diseases.Copyright © 2022 Elsevier B.V. All rights reserved.