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Identification of a missense mutation causing exon skipping in a neurofibromatosis type 1 patient
Author(s) -
Fu Ying,
Zhang Jiaqi,
Jiang Chunlai,
Wang Huiyan
Publication year - 2018
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/1346-8138.14493
Subject(s) - minigene , exon , neurofibromatosis , intron , missense mutation , genetics , biology , exon skipping , mutation , microbiology and biotechnology , gene , alternative splicing
Neurofibromatosis type 1 ( NF 1), caused by germ line mutations of the NF 1 tumor‐suppressor gene, is one of the most common autosomal dominant disorders. Here, we reported a NF 1 patient with the mutation NF 1 c.4367+1G>C. This sequence change locates at the first nucleotide of NF 1 intron 32 within the consensus splice site. Compared with NF 1 c.4367G>C predicted to potentially damage the wild‐type donor site at c.4367, the NF 1 c.4367+1G>C potentially abolishes this wild‐type donor site by in silico analysis. In vitro minigene assay revealed that the NF 1 c.4367+1G>C may cause exon 32 skipping. Our result provides further evidence for its clinical significance of NF 1 c.4367+1G>C in clinical practise.