Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1

Xavier P. Estivill, Conxi Lázaro, Teresa Casals, Anna Ravella

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The gene responsible for von Recklinghausen neurofibromatosis (NF1) has recently been identified, and several point mutations and deletions have been described. The availability of intron-exon boundaries of several exons of the NF1 gene facilitates the search for mutations in affected patients. We have analysed 38 patients for mutations in exon 4 of the NF1 gene, and found one patient with a C→T transition at base position 1087 of the cDNA, changing an arginine codon to a stop codon, at amino acid position 365. Sequencing of other members of the family, including both parents, did not show the mutation, confirming that this mutation is responsible for this sporadic NF1 case. As the mutation described here was previously identified in an independent case by others, this case represents a recurrence of this mutation and suggests that codon 365 might be a hot spot for mutations in the NF1 gene. Thus, a specific search for this mutation should be performed when studying NF1 sporadic or familiar cases for genetic analysis.

Original languageEnglish
Pages (from-to)185-188
Number of pages4
JournalHuman Genetics
Issue number2
Publication statusPublished - Dec 1991
Externally publishedYes


ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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