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, Simona Costabel, Carmen La Rosa, Cecilia Garrè, Domenico A. Coviello, Franco Ajmar, Bruno Dallapiccola, Eugenio Bonioli

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Abstract

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 individuals, while 8 were young children with only multiple cafè-au-lait spots. We detected 46 truncated fragments, and 24 of them were fully characterized by SSCP and direct sequencing. Of the 24, 14 were known mutations (R304X, R681X, Q682X, R1306X, R1362X, R1513X, R1748X, Q1794X, R1947X, Y2264X, R2237X, 2674delA, 6789delTTAC, 2027insC). The other 10 mutations represent novel changes that contribute to the germline mutational spectrum of the NF1 gene (K810X, Q2595X, 6772delT, 7190delCT, 7331delA, 1021insTT, 3921insT, 4106insTA, 7149insC, 2033insCG / 2034delA). PTT in a large number of Italian NF1 patients supports the usefulness of this method for characterization of mutations in disorders where the responsible gene is very large and the disease-causing mutations often create a stop codon. In agreement with previous reports, no mutational hotspots within the NF1 gene were detected.

Original languageEnglish
Pages (from-to)74-75
Number of pages2
JournalHuman Mutation
Volume20
Issue number1
Publication statusPublished - Jul 2002

Fingerprint

Neurofibromatosis 1 Genes
Neurofibromatosis 1
Mutation
Single-Stranded Conformational Polymorphism
Terminator Codon
DNA Sequence Analysis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients. / Origone, Paola; De Luca, Alessandro; Bellini, Carlo; Buccino, Anna; Mingarelli, Rita; Costabel, Simona; La Rosa, Carmen; Garrè, Cecilia; Coviello, Domenico A.; Ajmar, Franco; Dallapiccola, Bruno; Bonioli, Eugenio.

In: Human Mutation, Vol. 20, No. 1, 07.2002, p. 74-75.

Research output: Contribution to journalArticle

Origone, P, De Luca, A, Bellini, C, Buccino, A, Mingarelli, R, Costabel, S, La Rosa, C, Garrè, C, Coviello, DA, Ajmar, F, Dallapiccola, B & Bonioli, E 2002, 'Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients.', Human Mutation, vol. 20, no. 1, pp. 74-75.
Origone, Paola ; De Luca, Alessandro ; Bellini, Carlo ; Buccino, Anna ; Mingarelli, Rita ; Costabel, Simona ; La Rosa, Carmen ; Garrè, Cecilia ; Coviello, Domenico A. ; Ajmar, Franco ; Dallapiccola, Bruno ; Bonioli, Eugenio. / Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients. In: Human Mutation. 2002 ; Vol. 20, No. 1. pp. 74-75.
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