title: Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients [corrected].
abstract: In the present study the entire NF1 coding region was analyzed for mutations in 132 unrelated Italian NF1 patients. Using PTT, SSCP, and DNA sequencing, we found 8 novel mutations. Clinical diagnosis of NF1 was established according to the NIH consensus criteria. We detected 59 truncated fragments, and 46 of them were characterized by SSCP and direct sequencing. Eight mutations represent novel changes that contribute to the germline mutational spectrum of the NF1 gene. In two patients, premature termination was due to substitutions at nucleotide c.3982C>T (Q1298X) and c.7411C>T (Q2471X), respectively. Two other mutations were caused by the deletions (1756delA, 4699delA), and two by the insertions (c.5266_5267insT, c.7464_7465insTCCA) of a small number of nucleotides. Lastly, we found 2 splice-site mutations (c.2252-2A>C, c.2251+1G>A).
authors.affiliation: Dipartimento di Oncologia, Biologia e Genetica, Università di Genova, Genova, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Origone
authors.forename: Carlo
authors.initials: C
authors.lastname: Bellini
authors.forename: Debora
authors.initials: D
authors.lastname: Sambarino
authors.forename: Barbara
authors.initials: B
authors.lastname: Banelli
authors.forename: Guido
authors.initials: G
authors.lastname: Morcaldi
authors.forename: Carmen
authors.initials: C
authors.lastname: La Rosa
authors.forename: Franco
authors.initials: F
authors.lastname: Stanzial
authors.forename: Claudio
authors.initials: C
authors.lastname: Castellan
authors.forename: Domenico A
authors.initials: DA
authors.lastname: Coviello
authors.forename: Cecilia
authors.initials: C
authors.lastname: Garrè
authors.forename: Eugenio
authors.initials: E
authors.lastname: Bonioli
mesh_terms: D004252:DNA Mutational Analysis; D016368:Frameshift Mutation / Q000235:genetics; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D007558:Italy; D016254:Mutagenesis, Insertional / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D009456:Neurofibromatosis 1 / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics