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- Title
Neurofibromatosis eurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patientsCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #637 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/637.pdf
- Authors
Paola Origone; Carlo Bellini; Debora Sambarino; Barbara Banelli; Guido Morcaldi; Carmen La Rosa; Franco Stanzial; Claudio Castellan; Domenico A. Coviello; Cecilia Garrè; Eugenio Bonioli
- 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.5266underscore;5267insT, c.7464underscore;7465insTCCA) of a small number of nucleotides. Lastly, we found 2 splice?site mutations (c.2252?2A>C, c.2251+1G>A). © 2003 Wiley?Liss, Inc.
- Subjects
GENETICS of neurofibromatosis; GENETIC mutation; GENETIC code; NUCLEOTIDE sequence; GERM cells; NUCLEOTIDES
- Publication
Human Mutation, 2003, Vol 22, Issue 2, p179
- ISSN
1059-7794
- Publication type
Article
- DOI
10.1002/humu.9166