Schwannomin: new insights into this member of the band 4.1 superfamily

1995 ◽  
Vol 73 (9-10) ◽  
pp. 733-737 ◽  
Author(s):  
Michael J. Belliveau ◽  
Mohini Lutchman ◽  
Jaime O. Claudio ◽  
Claude Marineau ◽  
Guy A. Rouleau
Keyword(s):  
Autosomal Dominant ◽  
Protein Tyrosine Phosphatases ◽  
Neurofibromatosis Type ◽  
Fundamental Question ◽  
Tumour Suppressor ◽  
Nf2 Gene ◽  
Central Nervous System Tumours ◽  
Dominant Disease ◽  
Key Questions

Neurofibromatosis type 2 (NF2) is an autosomal dominant disease characterized by the development of central nervous system tumours. The NF2 gene was recently cloned and found to encode a protein, schwannomin (or merlin), with homology to the band 4.1 superfamily. This superfamily of proteins includes ezrin, moesin, radixin, and talin, as well as several protein tyrosine phosphatases. How does a cytoskeleton-associated protein act as a tumour suppressor? While this fundamental question remains unanswered, recent studies have begun to address key questions regarding the function of schwannomin. In this review, we examine what is known about the band 4.1 superfamily and how this information pertains to schwannomin. In addition, we summarize recent studies of schwannomin itself.Key words: NF2, band 4.1, tumour suppressor, cytoskeleton.

Family with neurofibromatosis type 2 and autosomal dominant hearing loss: identification of carriers of the mutated NF2 gene

1995 ◽  
Vol 96 (1) ◽  
pp. 1-5 ◽  
Author(s):  
E. K. Bijlsma ◽  
P. Merel ◽  
P. Fleury ◽  
C. J. van Asperen ◽  
A. Westerveld ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Dominant ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Nf2 Gene

scholarly journals Molecular Studies of Candidate Gene Somatic Mutations in Human Schwannoma Tumors

2019 ◽  
Vol 20 (3) ◽  
Author(s):  
Amanda Victoria Martinez
Keyword(s):  
Peripheral Nerves ◽  
Cell Biology ◽  
Somatic Mutations ◽  
Autosomal Dominant ◽  
Neurofibromatosis Type ◽  
Germline Mutations ◽  
Gene Copy ◽  
Nf2 Gene ◽  
Normal Gene

Schwannomas are benign Schwann cell tumors on the peripheral nerves that occur in the autosomal dominant conditions of NF2 (neurofibromatosis type 2) or schwannomatosis. NF2 is caused by germline mutations in the NF2 gene, and patients can form tumors when the remaining normal gene copy is mutated. In schwannomatosis, two genes are known to have germline mutations: SMARCB1 and LZTR1, both near the NF2 gene on chromosome 22. Schwannomas in schwannomatosis have variable somatic deletions of multiple genes, and the tumors also have a risk of becoming malignant. These tumors can cause deformities, functional problems, substantial pain, and even lead to death. Schwannomas are difficult to treat because surgery involves cutting the affected nerves. There are currently no drug therapies, and due to the paucity of cell cultures and cell lines, there is a lack of molecular and cell biology data about schwannomas. The goal of this work was to better characterize a set of 20 tumors, to contribute information helpful in developing more targeted therapies. This involved loss of heterozygosity study using polymorphisms in or near the genes NF2, LZTR1 and SMARCB1 to identify somatic deletions. DNA sequencing of SMARCB1 exons was also carried out to search for germline and somatic mutations. This work revealed several mutations that contribute new knowledge to the field.

Neurofibromatosis type 2 attributable to gonosomal mosaicism in a clinically normal mother, and identification of seven novel mutations in the NF2 gene

2000 ◽  
Vol 107 (4) ◽  
pp. 366-371 ◽  
Author(s):  
Roberta Sestini ◽  
Rossella Vivarelli ◽  
Paolo Balestri ◽  
Franco Ammannati ◽  
Enrico Montali ◽  
...  
Keyword(s):  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Novel Mutations ◽  
Nf2 Gene ◽  
Clinically Normal

Screening for mutations in the neurofibromatosis type 2 (NF2) gene in sporadic meningiomas

1996 ◽  
Vol 97 (5) ◽  
pp. 632-637 ◽  
Author(s):  
Lucia Rosaria De Vitis ◽  
Andrea Tedde ◽  
Francesca Vitelli ◽  
Franco Ammannati ◽  
Pasquale Mennonna ◽  
...  
Keyword(s):  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Nf2 Gene

Germline mutations in the neurofibromatosis type 2 tumour suppressor gene

1994 ◽  
Vol 3 (5) ◽  
pp. 813-816 ◽  
Author(s):  
David Bourn ◽  
Simon A. Carter ◽  
Susan Mason ◽  
D.Gareth R. Evans ◽  
Tom Strachan
Keyword(s):  
Neurofibromatosis Type ◽  
Germline Mutations ◽  
Suppressor Gene ◽  
Tumour Suppressor Gene ◽  
Neurofibromatosis Type 2 ◽  
Tumour Suppressor

A clinical, genetic and audiological study of patients and families with bilateral acoustic neurofibromatosis

1993 ◽  
Vol 107 (1) ◽  
pp. 6-11 ◽  
Author(s):  
W. J. Neary ◽  
V. E. Newton ◽  
M. Vidler ◽  
R. T. Ramsden ◽  
R. H. Lye ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Neurofibromatosis Type ◽  
Team Approach ◽  
Clinical Genetic ◽  
Acoustic Neuromas ◽  
Café Au Lait Spots ◽  
Lisch Nodules ◽  
Hereditary Disorders

AbstractThe neurofibromatoses consist of at least two distinct autosomal dominant hereditary disorders. Neurofibromatosis type 1 (NF1) is due to a lesion on chromosome 17q. Neurofibromatosis type 2 (NF2) is caused by a defect on chromosome 22q. The hallmark of NF2 is the development, in the second and third decades, of bilateral acoustic neuromas. NF1 is characterized by the appearance of cafe-au-lait spots and neurofibromas in addition to iris hamartomas, or Lisch nodules, of the eye, during the first and second decades.Ten families were personally studied. A total of 16 members were found to be affected with NF2. A protocol for evaluation and review of subjects and relatives of NF2 families is proposed. A team approach, coordinating the expertise of multiple specialties is recommended.

Screening for mutations in the neurofibromatosis type 2 (NF2) gene in sporadic meningiomas

1996 ◽  
Vol 97 (5) ◽  
pp. 632-637 ◽  
Author(s):  
Lucia Rosaria De Vitis ◽  
Andrea Tedde ◽  
Francesca Vitelli ◽  
Franco Ammannati ◽  
Pasquale Mennonna ◽  
...  
Keyword(s):  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Nf2 Gene

scholarly journals Rare variant of misme syndrome – a case report with review of literature

2016 ◽  
Vol 30 (3) ◽  
pp. 444-450
Author(s):  
Ashish Kumar Dwivedi ◽  
Shashi Kant Jain ◽  
Ashok Gandhi
Keyword(s):  
Nervous System ◽  
Autosomal Dominant ◽  
Neurofibromatosis Type ◽  
Suppressor Gene ◽  
Initial Presentation ◽  
Spinal Tumors ◽  
Simultaneous Occurrence ◽  
Benign Tumors ◽  
Review Of Literature

Abstract MISME syndrome, also known as neurofibromatosis type-2 (NF2), stands for multiple inherited schwannomas, meningiomas, and ependymomas (MISME) in the peripheral and central nervous system. It is a rare disorder of autosomal dominant inheritance due to mutations of a tumor-suppressor gene on the chromosome 22q12. Clinically, it is characterized by multiple benign tumors arising in both the central and the peripheral nervous system, particularly from the bilateral vestibular nerve in more than 90% of the patients and more than two thirds of them develop spinal tumors. Simultaneous occurrence of bilateral vestibular schwanoma with cervical and lumbar ependymoma without neuro cutaneous marker with weakness of limb as initial presentation is rare finding in single patient. Here, we are reporting a rare case of MISME syndrome harbouring bilateral vestibular schwanoma with cervical and lumbar ependymoma tumors in a 45 year old male patient having no other lesion and neurocutaneous marker with weakness of limb as initial presentation without posterior subcapsular cataract.

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