遗传学
同义替换
RNA剪接
外显子
无声突变
生物
桑格测序
外显子剪接增强剂
外显子组测序
突变
基因
剪接位点突变
外显子跳跃
外显子组
选择性拼接
错义突变
密码子使用偏好性
基因组
核糖核酸
作者
Pengzhen Jin,Kai Yan,Shaofen Ye,Yeqing Qian,Zaigui Wu,Miaomiao Wang,Yuqing Xu,Yanfei Xu,Minyue Dong
标识
DOI:10.3389/fgene.2021.772958
摘要
Synonymous mutations are generally considered non-pathogenic because it did not alter the amino acids of the encoded protein. Publications of the associations between synonymous mutations and abnormal splicing have increased recently, however, not much observations available described the synonymous mutations at the non-canonical splicing sites leading to abnormal splicing. In this pedigree, the proband was diagnosed Neurofibromatosis type I due to the presence of typical cafe’ au lait macules and pectus carinatum. Whole-exome sequencing identified a synonymous mutation c.6795C > T (p.N2265N) of the NF1 gene which was located at the non-canonical splicing sites. Reverse transcription polymerase chain reaction followed by Sanger sequencing was carried out, and the skipping of exon 45 was observed. Therefore, the pathogenicity of the synonymous mutation c.6795C > T was confirmed. Our finding expanded the spectrum of pathogenic mutations in Neurofibromatosis type I and provided information for genetic counseling.
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