Neurofibromatosis 1 (NF1) is one of the most common inherited neurologic diseases. NF1 is due to autosomal dominant mutations in the Nf1 gene; fifty percent of cases have de novo mutations. Mutations appear to be fully penetrant with intra- and inter-familial variability. Genetic counseling can be complicated by the possibility of mosaicism. People with NF1 often experience shame about their own condition and guilt of passing on the disorder. Genetic counseling should address the psychosocial aspects of the disease as well as the physical.
KeywordsGenetic Testing Genetic Counselor Preimplantation Genetic Diagnosis Malignant Peripheral Nerve Sheath Tumor Genetic Test Result
Neurofibromatosis 1 (NF1) Part 1 (MOV 373,086 kb)
Neurofibromatosis 1 (NF1) Part 2 (MOV 297,172 kb)
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