Neurofibromatosis 2 [Bilateral acoustic neurofibromatosis, central neurofibromatosis, NF2, neurofibromatosis type II]
نویسندگان
چکیده
منابع مشابه
NF2 gene in neurofibromatosis type 2 patients.
Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder that predisposes to nervous system tumors. The schwannomin (also termed merlin) protein encoded by the NF2 gene shows a close relationship to the family of cytoskeleton-to-membrane proteins linkers ERM (ezrin-radixin-moesin proteins). Even though penetrance of the disease is >95% and no genetic heterogeneity has been described, po...
متن کاملNeurofibromatosis type 2 D
Neurofibromatosis type 2 is an often devastating autosomal dominant disorder which, until relatively recently, was confused with its more common namesake neurofibromatosis type 1. Subjects who inherit a mutated allele of the NF2 gene inevitably develop schwannomas, aVecting particularly the superior vestibular branch of the 8th cranial nerve, usually bilaterally. Meningiomas and other benign ce...
متن کاملNeurofibromatosis type 2.
Neurofibromatosis type 2 (NF2) is a rare syndrome characterized by bilateral vestibular schwannomas, multiple meningiomas, cranial nerve tumors, spinal tumors, and eye abnormalities. NF2 presents unique challenges to the otologist because hearing loss may be the presenting complaint leading to the diagnosis of the disorder. Care of patients with NF2 requires knowledge of all tumors and symptoms...
متن کاملNeurofibromatosis type 2 protein, NF2: an uncoventional cell cycle regulator.
Neurofibromatosis type 2 protein (NF2) is an underappreciated tumor suppressor involved in a broad range of nervous system tumors. Inactivation of the NF2 gene leads to neurofibromatosis type-2, which is characterized by multiple benign nervous system tumors and mutations in the gene have been demonstrated in many other tumor types as well. All tumors, regardless of location or grade, lack a fu...
متن کاملNeurofibromatosis type 2 (NF2): A clinical and molecular review
Neurofibromatosis type 2 (NF2) is a tumour-prone disorder characterised by the development of multiple schwannomas and meningiomas. Prevalence (initially estimated at 1: 200,000) is around 1 in 60,000. Affected individuals inevitably develop schwannomas, typically affecting both vestibular nerves and leading to hearing loss and deafness. The majority of patients present with hearing loss, which...
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ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2009
ISSN: 1098-3600,1530-0366
DOI: 10.1097/gim.0b013e3181ac9a27