Neurofibromatosis: Novel and Recurrent Mutations in Turkish Patients

• Published in: Pediatric neurology Vol. 37; no. 6; pp. 421 - 425
• Main Authors: Terzi, Yunus Kasim, Oguzkan, Sibel, Anlar, Banu, Aysun, Sabiha, Ayter, Sukriye
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 01.12.2007; Elsevier
• Subjects: Adolescent; Adult; Aged; Biological and medical sciences; Child; Child, Preschool; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; DNA Mutational Analysis - methods; Exons; Family Health; Female; Humans; Infant; Male; Medical sciences; Middle Aged; Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis; Mutation; Neurofibromatosis 1 - epidemiology; Neurofibromatosis 1 - genetics; Neurofibromin 1 - genetics; Neurology; Pediatrics; Turkey - epidemiology; Turkey; Human; Nervous system diseases; Phacomatosis; Neurofibromatosis; Benign neoplasm; Mutation; Recurrent

Neurofibromatosis type 1 is an autosomal-dominant disorder affecting approximately 1 in 3500 births. It is characterized by café-au-lait spots, neurofibromas, axillary/inguinal freckling, and skeletal and neurologic signs. It exhibits full penetrance and a high mutation rate: 50% of neurofibromatosi...