NF1
| is a | gene |
| is | mentioned by |
| ClinVar | NF1 |
| GeneCards | NF1 |
| Diseases | NF1 |
| wikipedia | NF1 |
| NF1 | |
| gopubmed | NF1 |
| EVS | NF1 |
| HEFalMp | NF1 |
| MyGene2 | NF1 |
| 23andMe | NF1 |
| # SNPs | 276 |
The NF1 gene, located on chromosome 17, encodes neurofibromin, a protein needed for normal function in many human cell types. Loss-of-function mutations in the NF1 gene can lead to neurofibromatosis type 1 (NF-1), one of the most common dominantly inherited genetic disorders with a birth incidence of 1 in 2,000–3,000.Wikipedia
NF-1 causes tumors along the nervous system which can grow anywhere on the body. Common symptoms of NF-1 include brownish-red spots in the colored part of the eye called Lisch nodules, benign skin tumors called neurofibromas, and larger benign tumors of nerves called plexiform neurofibromas, scoliosis (curvature of the spine), learning disabilities, vision disorders, mental disabilities, multiple café au lait (TCL, name of specifics spots) spots and epilepsy. NF-1 affected individuals also have a much higher rate of cancer and cardiovascular disease than the population in general.Wikipedia
Although over 2,800 different germline NF1 pathogenic variants have been identified in a registry maintained at the University of Alabama at Birmingham (UAB), most are extremely rare; only 31 unique pathogenic variants are present in ≥0.5% of all unrelated individuals. In 2017, UAB researchers published a paper identifying missense mutations in codons 844-848 of the NF1 gene as an important risk factor for severe NF-1 symptoms, and therefore an need for increased disease surveillance of patients with mutations in those codons.10.1016/j.ajhg.2017.12.001
Mutations from codons 844-848 include:
- rs199474785, c.2530C>T (p.Leu844Phe)
- rs137854566, c.2531T>G (p.Leu844Arg)
- rs199474747, c.2540T>C (p.Leu847Pro)
- rs199474748, c.2543G>A (p.Gly848Glu)
- rs1060500254, c.2533T>C (p.Cys845Arg)
- rs1060500367, c.2534G>A (p.Cys845Tyr)
- rs1555614229, c.2537C>A (p.Ala846Asp)
- rs1060500368, c.2542G>C and c.2542G>A (p.Gly848Arg)
