Genetic and clinical considerations in six cases with neurofibromatosis type 1.
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder, caused by mutations in the NF1 gene. The NF1 gene encoding neurofibromin protein, which is strongly expressed in the nervous system and with the role as a negative regular of the ras proteins signal. All six cases with neurofibromatosis type 1 were clinical and laboratory investigated. The frequently symptoms are "café au lait" spots and neurofibromas. In two cases, the disease is associated with essential hypertension and, in other two cases with kyphoscoliosis. The novo mutations in NF1 gene cause the disease in three cases, and in other three cases, the mutation is inherited (two cases on father side and one case on mother side).
Buteică
Elena
E
Department of Genetics, University of Medicine and Pharmacy of Craiova, Romania. buteicaelena@yahoo.com
Stoicescu
Irina
I
Burada
F
F
Stănoiu
B
B
D000328:Adult; D000368:Aged; D019080:Cafe-au-Lait Spots / Q000175:diagnosis / Q000235:genetics; D002648:Child; D005260:Female; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D012878:Skin Neoplasms / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology