𝔖 Bobbio Scriptorium
✦   LIBER   ✦

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

✍ Scribed by Paola Origone; Carlo Bellini; Debora Sambarino; Barbara Banelli; Guido Morcaldi; Carmen La Rosa; Franco Stanzial; Claudio Castellan; Domenico A. Coviello; Cecilia Garrè; Eugenio Bonioli

Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
154 KB
Volume
22
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

✦ Synopsis

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).

📜 SIMILAR VOLUMES

Ten novel mutations in the human neurofi
Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients
✍ Paola Origone; Alessandro De Luca; Carlo Bellini; Anna Buccino; Rita Mingarelli; 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 234 KB

The entire NF1 coding region was analyzed for mutations in a panel of 108 unrelated Italian NF1 patients. Using PTT, SSCP, and DNA sequencing, we found 10 mutations which have never been reported before. Clinical diagnosis of NF1 was established according to the NIH consensus criteria in 100 individ

RecurrentNF1 gene mutation in a patient
RecurrentNF1 gene mutation in a patient with oligosymptomatic neurofibromatosis type 1 (NF1)
✍ Buske, Annegret; Gewies, Andreas; Lehmann, R�diger; R�ther, Klaus; Algermissen, 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 10 KB 👁 2 views

We report a 21-year-old male with symptomatic optic glioma who does not fulfill the diagnosis of neurofibromatosis 1 (NF1) according to standard NIH criteria. Analysis of the NF1 gene revealed a recurrent mutation in exon 37 (C6792A or Y2264X). This nonsense mutation causes skipping of exon 37 durin

NF1 mutations in neurofibromatosis 1 pat
NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas
✍ Lan Kluwe; Reinhard E. Friedrich; Bruce Korf; Raimund Fahsold; Victor-F. Mautner 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 198 KB

Neurofibromatosis 1 (NF1) is an autosomal dominant disorder caused by genetic alterations of the NF1 gene on 17q11.2. About 30% of NF1 patients develop plexiform neurofibromas (PNFs), which often cause severe clinical deficits. To determine whether there is a certain genotype underlying PNFs or subt