Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions

Catalina López Correa, Hilde Brems, Conxi Lázaro, Xavier Estivill, Maurizio Clementi, Silvia Mason, J. Lynn Rutkowski, Peter Marynen, Eric Legius

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51 Citations (Scopus)

Abstract

Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder characterized by a marked variability in expression. A more severe phenotype is frequently observed in the group of patients carrying a large NF1 deletion. To study the extent of the microdeletion in these NF1 patients, we generated a partial physical map of the NF1 flanking region. We describe seven PACs and three new polymorphic dinucleotide repeats located outside the NF1 gene and analyzed 20 unrelated individuals with an NF1 microdeletion in a collaborative study. We detected one individual with a substantially smaller deletion including only the NF1 gene and its three embedded genes. In the other 19 patients, the deletion extended at least 1 Mb. The parental origin of the deletion was determined in 15 individuals and was maternal in 13 and paternal in two cases. The new molecular tools described here can be used to unequivocally diagnose a possible extragenic extension of an NF1 deletion.

Original languageEnglish
Pages (from-to)387-393
Number of pages7
JournalHuman mutation
Volume14
Issue number5
DOIs
Publication statusPublished - 22 Nov 1999

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Keywords

  • Contiguous gene syndrome
  • FISH
  • Microdeletion
  • NF1
  • Neurofibromatosis type I

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Correa, C. L., Brems, H., Lázaro, C., Estivill, X., Clementi, M., Mason, S., Rutkowski, J. L., Marynen, P., & Legius, E. (1999). Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions. Human mutation, 14(5), 387-393. https://doi.org/10.1002/(SICI)1098-1004(199911)14:5<387::AID-HUMU4>3.0.CO;2-4