BIOMAT Database Logo BIOMAT Database Logo

Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene. 1997

J Hudson, and C L Wu, and M Tassabehji, and E M Summers, and S Simon, and M Super, and D Donnai, and N Thakker
University of Manchester, Department of Medical Genetics, Saint Mary's Hospital, U.K.

UI MeSH Term Description Entries
D008297 Male Males
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
D004252 DNA Mutational Analysis Biochemical identification of mutational changes in a nucleotide sequence. Mutational Analysis, DNA,Analysis, DNA Mutational,Analyses, DNA Mutational,DNA Mutational Analyses,Mutational Analyses, DNA
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
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D016368 Frameshift Mutation A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously. Mutation, Frameshift,Frame Shift Mutation,Out-of-Frame Deletion,Out-of-Frame Insertion,Out-of-Frame Mutation,Deletion, Out-of-Frame,Deletions, Out-of-Frame,Frame Shift Mutations,Frameshift Mutations,Insertion, Out-of-Frame,Insertions, Out-of-Frame,Mutation, Frame Shift,Mutation, Out-of-Frame,Mutations, Frame Shift,Mutations, Frameshift,Mutations, Out-of-Frame,Out of Frame Deletion,Out of Frame Insertion,Out of Frame Mutation,Out-of-Frame Deletions,Out-of-Frame Insertions,Out-of-Frame Mutations
D016514 Genes, Neurofibromatosis 1 Tumor suppressor genes located on the long arm of human chromosome 17 in the region 17q11.2. Mutation of these genes is thought to cause NEUROFIBROMATOSIS 1, Watson syndrome, and LEOPARD syndrome. Genes, nf1,Neurofibromatosis 1 Genes,nf1 Genes,Genes, nf 1,Gene, nf 1,Gene, nf1,Neurofibromatosis 1 Gene,nf 1 Gene,nf 1 Genes,nf1 Gene
D017354 Point Mutation A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. Mutation, Point,Mutations, Point,Point Mutations

Related Publications

J Hudson, and C L Wu, and M Tassabehji, and E M Summers, and S Simon, and M Super, and D Donnai, and N Thakker
Six novel mutations in the neurofibromatosis type 1 (NF1) gene.
January 1997, Human mutation,
J Hudson, and C L Wu, and M Tassabehji, and E M Summers, and S Simon, and M Super, and D Donnai, and N Thakker
Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.
June 2004, Human mutation,
J Hudson, and C L Wu, and M Tassabehji, and E M Summers, and S Simon, and M Super, and D Donnai, and N Thakker
Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients.
June 2003, Journal of medical genetics,
J Hudson, and C L Wu, and M Tassabehji, and E M Summers, and S Simon, and M Super, and D Donnai, and N Thakker
Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1.
January 2007, Journal of molecular neuroscience : MN,
J Hudson, and C L Wu, and M Tassabehji, and E M Summers, and S Simon, and M Super, and D Donnai, and N Thakker
Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene.
January 1996, Human mutation,
J Hudson, and C L Wu, and M Tassabehji, and E M Summers, and S Simon, and M Super, and D Donnai, and N Thakker
Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients.
July 2002, Human mutation,
J Hudson, and C L Wu, and M Tassabehji, and E M Summers, and S Simon, and M Super, and D Donnai, and N Thakker
NF1 gene mutations in Japanese with neurofibromatosis 1 (NF1).
July 1995, Biochemical and biophysical research communications,
J Hudson, and C L Wu, and M Tassabehji, and E M Summers, and S Simon, and M Super, and D Donnai, and N Thakker
Recurrent NF1 gene mutation in a patient with oligosymptomatic neurofibromatosis type 1 (NF1).
October 1999, American journal of medical genetics,
J Hudson, and C L Wu, and M Tassabehji, and E M Summers, and S Simon, and M Super, and D Donnai, and N Thakker
Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene.
September 1995, Journal of medical genetics,
J Hudson, and C L Wu, and M Tassabehji, and E M Summers, and S Simon, and M Super, and D Donnai, and N Thakker
Novel human pathological mutations. Gene symbol: NF1. Disease: neurofibromatosis 1.
June 2007, Human genetics,
Copied contents to your clipboard!