Screening of neurofibromatosis type 1 gene: Identification of a large deletion and of an intronic variant

A. Grifa, M. R. Piemontese, S. Melchionda, P. Origone, L. Zelante, D. Coviello, G. Fratta, B. Dallapiccola, P. Balestrazzi, F. Ajmar, P. Gasparini

Research output: Contribution to journalArticlepeer-review

Abstract

Neurofibromatosis type 1 of von Recklinghausen is a common autosomal dominant disorder, characterized by peripheral neurofibromas, cafe-au-lait spots and Lisch nodules of the iris. The high mutation rate at the neurofibromatosis type 1 locus results in a wide range of molecular abnormalities. We have screened seven different exons of the neurofibromatosis type 1 gene, including those codifying for the GAP-related domain, using the RNA-Single Strand Conformation Polymorphism (RNA-SSCP) method in a series of 59 neurofibromatosis type 1 patients. We have also analyzed four intragenic repeats and one RFLP to detect hemizygosity and evaluate informativeness in at-risk families. One deletion and a new intronic normal variant have been detected. Thus the majority of Neurofibromatosis type 1 chromosomes have not been characterized, confirming difficulty in providing proper genetic counselling in neurofibromatosis type 1 families, even following extensive DNA analysis.

Original languageEnglish
Pages (from-to)281-284
Number of pages4
JournalClinical Genetics
Volume47
Issue number6
Publication statusPublished - 1995

Keywords

  • Microsatellites
  • Mutations
  • Neurofibromatosis type 1
  • RNA-SSCP

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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