Article
Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review.
BMC medical genomics - 6 Mar 2024
Pacot Laurence, Girish Milind, Knight Samantha, Spurlock Gill, Varghese Vinod, Ye Manuela, Thomas Nick, Pasmant Eric, Upadhyaya Meena
Abstract excerpt
About 5-10% of neurofibromatosis type 1 (NF1) patients exhibit large genomic germline deletions that remove the NF1 gene and its flanking regions. The most frequent NF1 large deletion is 1.4 Mb, resulting from homologous recombination between two low copy repeats. This "type-1" deletion is associated with a severe clinical phenotype in NF1 patients, with several phenotypic manifestations including learning...
Topics
- Humans
- DNA Copy Number Variations
- Skin Neoplasms
- Comparative Genomic Hybridization
- Genomics
- Phenotype