Case Report: A Synonymous Mutation in NF1 Located at the Non-canonical Splicing Site Leading to Exon 45 Skipping
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...
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2021
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oai:doaj.org-article:df144d869635461d874a6ab5a2f51ce02021-11-19T07:53:53ZCase Report: A Synonymous Mutation in NF1 Located at the Non-canonical Splicing Site Leading to Exon 45 Skipping1664-802110.3389/fgene.2021.772958https://doaj.org/article/df144d869635461d874a6ab5a2f51ce02021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fgene.2021.772958/fullhttps://doaj.org/toc/1664-8021Synonymous 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.Pengzhen JinKai YanKai YanShaofen YeYeqing QianYeqing QianZaigui WuMiaomiao WangYuqing XuYanfei XuMinyue DongMinyue DongMinyue DongFrontiers Media S.A.articlesynonymous mutationexon skippingalternative splicingwhole-exome sequencingNF1neurofibromatosis type IGeneticsQH426-470ENFrontiers in Genetics, Vol 12 (2021) |
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synonymous mutation exon skipping alternative splicing whole-exome sequencing NF1 neurofibromatosis type I Genetics QH426-470 |
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synonymous mutation exon skipping alternative splicing whole-exome sequencing NF1 neurofibromatosis type I Genetics QH426-470 Pengzhen Jin Kai Yan Kai Yan Shaofen Ye Yeqing Qian Yeqing Qian Zaigui Wu Miaomiao Wang Yuqing Xu Yanfei Xu Minyue Dong Minyue Dong Minyue Dong Case Report: A Synonymous Mutation in NF1 Located at the Non-canonical Splicing Site Leading to Exon 45 Skipping |
| description |
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. |
| format |
article |
| author |
Pengzhen Jin Kai Yan Kai Yan Shaofen Ye Yeqing Qian Yeqing Qian Zaigui Wu Miaomiao Wang Yuqing Xu Yanfei Xu Minyue Dong Minyue Dong Minyue Dong |
| author_facet |
Pengzhen Jin Kai Yan Kai Yan Shaofen Ye Yeqing Qian Yeqing Qian Zaigui Wu Miaomiao Wang Yuqing Xu Yanfei Xu Minyue Dong Minyue Dong Minyue Dong |
| author_sort |
Pengzhen Jin |
| title |
Case Report: A Synonymous Mutation in NF1 Located at the Non-canonical Splicing Site Leading to Exon 45 Skipping |
| title_short |
Case Report: A Synonymous Mutation in NF1 Located at the Non-canonical Splicing Site Leading to Exon 45 Skipping |
| title_full |
Case Report: A Synonymous Mutation in NF1 Located at the Non-canonical Splicing Site Leading to Exon 45 Skipping |
| title_fullStr |
Case Report: A Synonymous Mutation in NF1 Located at the Non-canonical Splicing Site Leading to Exon 45 Skipping |
| title_full_unstemmed |
Case Report: A Synonymous Mutation in NF1 Located at the Non-canonical Splicing Site Leading to Exon 45 Skipping |
| title_sort |
case report: a synonymous mutation in nf1 located at the non-canonical splicing site leading to exon 45 skipping |
| publisher |
Frontiers Media S.A. |
| publishDate |
2021 |
| url |
https://doaj.org/article/df144d869635461d874a6ab5a2f51ce0 |
| work_keys_str_mv |
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