Biomaterial Database

Identification of a missense mutation causing exon skipping in a neurofibromatosis type 1 patient. 2018

Ying Fu, and Jia-Qi Zhang, and Chun-Lai Jiang, and Hui-Yan Wang

Jilin Medical University, Jilin, China.

Neurofibromatosis type 1 (NF1), caused by germ line mutations of the NF1 tumor-suppressor gene, is one of the most common autosomal dominant disorders. Here, we reported a NF1 patient with the mutation NF1 c.4367+1G>C. This sequence change locates at the first nucleotide of NF1 intron 32 within the consensus splice site. Compared with NF1 c.4367G>C predicted to potentially damage the wild-type donor site at c.4367, the NF1 c.4367+1G>C potentially abolishes this wild-type donor site by in silico analysis. In vitro minigene assay revealed that the NF1 c.4367+1G>C may cause exon 32 skipping. Our result provides further evidence for its clinical significance of NF1 c.4367+1G>C in clinical practise.

UI	MeSH Term	Description	Entries
D009456	Neurofibromatosis 1	An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).	Peripheral Neurofibromatosis,Recklinghausen Disease of Nerve,von Recklinghausen Disease,Cafe-au-Lait Spots with Pulmonic Stenosis,Molluscum Fibrosum,NF1 (Neurofibromatosis 1),Neurofibromatosis I,Neurofibromatosis Type 1,Neurofibromatosis Type I,Neurofibromatosis, Peripheral Type,Neurofibromatosis, Peripheral, NF 1,Neurofibromatosis, Peripheral, NF1,Neurofibromatosis, Type 1,Neurofibromatosis, Type I,Pulmonic Stenosis with Cafe-au-Lait Spots,Recklinghausen Disease, Nerve,Recklinghausen's Disease of Nerve,Recklinghausens Disease of Nerve,Watson Syndrome,von Recklinghausen's Disease,Cafe au Lait Spots with Pulmonic Stenosis,Neurofibromatoses, Peripheral,Neurofibromatoses, Type I,Neurofibromatosis, Peripheral,Peripheral Neurofibromatoses,Pulmonic Stenosis with Cafe au Lait Spots,Syndrome, Watson,Type 1 Neurofibromatosis,Type 1, Neurofibromatosis,Type I Neurofibromatoses,Type I, Neurofibromatosis,von Recklinghausens Disease
D005091	Exons	The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.	Mini-Exon,Exon,Mini Exon,Mini-Exons
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D017422	Sequence Analysis, DNA	A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.	DNA Sequence Analysis,Sequence Determination, DNA,Analysis, DNA Sequence,DNA Sequence Determination,DNA Sequence Determinations,DNA Sequencing,Determination, DNA Sequence,Determinations, DNA Sequence,Sequence Determinations, DNA,Analyses, DNA Sequence,DNA Sequence Analyses,Sequence Analyses, DNA,Sequencing, DNA
D020125	Mutation, Missense	A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)	Missense Mutation,Missense Mutations,Mutations, Missense
D025542	Neurofibromin 1	A protein found most abundantly in the nervous system. Defects or deficiencies in this protein are associated with NEUROFIBROMATOSIS 1, Watson syndrome, and LEOPARD syndrome. Mutations in the gene (GENE, NEUROFIBROMATOSIS 1) affect two known functions: regulation of ras-GTPase and tumor suppression.	Neurofibromatosis Type 1 Protein,NF-1 Protein,NF1 GRP,NF1 Protein,NF1-GAP-Related Protein,Neurofibromatosis Type 1 Gene Product,Neurofibromin,NF 1 Protein,NF1 GAP Related Protein