Article
Breakpoint characterization of a novel NF1 multiexonic deletion: a case showing expression of the mutated allele.
Neurogenetics - 1 May 2008
Orzan Francesca, Stroppi Michela, Venturin Marco, Valero M Carmen, Hernández Concepcion, Riva Paola
Abstract excerpt
Neurofibromatosis type 1 (NF1) is a common genetic disease caused by haploinsufficiency of the NF1 tumor-suppressor gene. Different pathogenetic mechanisms have been identified, with the majority (95%) causing intragenic lesions. Single or multiexon NF1 copy number changes occur in about 2% of patients, but little is known about the molecular mechanisms behind these intragenic deletions. We report here on the...
Topics
- Adolescent
- Alleles
- Amino Acid Sequence
- Base Sequence
- Chromosomes, Human, Pair 17
- DNA Breaks
- Exons
- Gene Expression
- Genes, Neurofibromatosis 1
- Humans
- In Situ Hybridization, Fluorescence
- Male
- Molecular Sequence Data
- Neurofibromatosis 1
- Sequence Deletion