I was diagnosed with nf when i was little. I am now in high school, and i am learning about the different kinds of genetic mutations. I would like to include a little something in my report about nf, but i dont know if it is a point mutation, Additions and deletions, or one of the many others.
Thanks
*MAC* In 50% of cases, a parent passes the defective NF gene (i.e., NF1 or NF2) to an offspring, resulting in autosomal dominant transmission. The NF1 and NF2 genes have tumor suppressor function. Rarely, neurofibromatosis is caused by deletion of the NF1 or NF2 gene.In the other 50% of cases, a spontaneous genetic mutation occurs with no known cause, no hereditary link, and no family history of the disease. Neuro.... some kinda genetic disorder of the nervous system?
Found this site on google. hope this will help you. Summary
Disease characteristics. Neurofibromatosis 1 (NF1) is characterized by multiple caf茅 au lait spots, axillary and inguinal freckling, multiple discrete dermal neurofibromas, and iris Lisch nodules. Learning disabilities are present in at least 50% of individuals with NF1. Scoliosis, vertebral dysplasia, pseudarthrosis, and overgrowth are the most serious bony complications of NF1. Less common but potentially more serious manifestations include plexiform neurofibromas, optic and other central nervous system gliomas, malignant peripheral nerve sheath tumors, osseous lesions, and vasculopathy.
Diagnosis/testing. The diagnosis of NF1 is based on clinical findings. Heterozygous mutations of the NF1 gene are responsible for the vast majority of cases of neurofibromatosis. Homozygosity for a mutation of one of the genes associated with hereditary non-polyposis colon cancer can produce neurofibromatosis 1 in rare cases. Molecular genetic testing of the NF1 gene is available clinically but is infrequently needed for diagnosis.
Management. Treatment of manifestations: referral to specialists for treatment of complications involving the eye, central or peripheral nervous system, spine, or long bones; surgical removal of disfiguring or uncomfortable discrete cutaneous or subcutaneous neurofibromas. Surgical treatment of plexiform neurofibromas is often unsatisfactory; complete surgical excision, when possible, of malignant peripheral nerve sheath tumors. Treatment of optic gliomas is problematic as they are frequently stable or only very slowly progressive; dystrophic scoliosis often requires surgical management, whereas non-dystrophic scoliosis can be treated routinely. Surveillance: annual physical examination by a physician familiar with the disease; annual ophthalmologic examination in children, less frequently in adults; regular developmental assessment of children; regular blood pressure monitoring.
Heterozygous mutations of the NF1 gene are responsible for the vast majority of cases of NF1. |
