Abstract
Neurofibromatosis type 1 is a common neurocutaneous disorder, mostly caused by mutations in the NF1 gene. To identify the molecular genetic etiology of neurofibromatosis type 1 in two familiar and three sporadic cases of Han Chinese, DNA was isolated from the peripheral blood of eight patients in two NF1 pedigrees, three sporadic cases, and 100 unrelated healthy controls. Mutation screening for coding and exon-intron boundary sequences of NF1 gene was performed. Three novel missense mutations, c.601T>A in exon 4, c.871G>T in exon 6, and c.1448A>G in exon 10, were identified. These mutations provided new data for the spectrum of NF1 mutations causing neurofibromatosis type 1.
Highlights
Neurofibromatosis type 1 (NF1; OMIM#162200) is a common neurocutaneous disorder that is characterized by multiple cafe-aulait, skinfold freckling, Lisch nodules, and neurofibromas
Neurofibromas can occur in the gynecologic tract, including the cervix, resulting in cervical stenosis and lower abdominal pain [7]
We report two families and three sporadic cases affected by NF1, according to the revised NF1 criteria [3,10]
Summary
Neurofibromatosis type 1 (NF1; OMIM#162200) is a common neurocutaneous disorder that is characterized by multiple cafe-aulait, skinfold freckling, Lisch nodules, and neurofibromas. Café-au-lait (CAL) spots occur in more than 90% of NF1 cases, and present as well-circumscribed, light-brown, homogenous patches that range from 1 to 2 mm to greater than 20 cm in diameter, with the majority being under 10 cm [5]. Neurofibromas, another one of the hallmark signs of NF1, can occur on the whole body and vary in shape and size. Neurofibromas can occur in the gynecologic tract, including the cervix, resulting in cervical stenosis and lower abdominal pain [7]
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