Neurofibromatosis eurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients

Publisher Website
Google Scholar
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).
Funding Information
  • Ministero della Sanità-Ricerca Finalizzata 1999

This publication has 0 references indexed in Scilit: