Study finds key risk factor for severe NF1 symptoms
Author: University of Alabama at Birmingham
Published On: 01/28/2018
Research led by Ludwine Messiaen, Ph.D., professor of genetics at the University of Alabama at Birmingham, shows that missense mutations in a cluster of just five codons in the NF1 gene are an important risk factor for severe symptoms of the genetic disease neurofibromatosis type 1.
Such information is vital to help guide clinical management and genetic counseling in this complex disease that can be caused by more than 3,000 different mutations found in every part of this large NF1 gene. It shows a potential need for increased disease surveillance of patients with missense mutations in that cluster — specifically, codons 844 to 848.
Individuals with such mutations, the researchers found, have a high incidence of benign tumors of peripheral nerves or the spinal cord, tumors of the optic nerve, and skeletal abnormalities. They also have a high predisposition to develop malignancies, compared with the general neurofibromatosis population.
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