Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22

Abstract

Bilateral acoustic neurofibromatosis (BANF) is a severe autosomal dominant disorder involving development of multiple tumours of the nervous system including meningiomas, gliomas, neurofibromas and particularly bilateral acoustic neuromas. We have used genetic linkage analysis with DNA markers to establish that the defective gene causing BANF is on chromosome 22, and is therefore distinct from the gene for the von Recklinghausen form of neurofibromatosis, which maps to chromosome 17. Linked DNA markers will be particularly valuable in BANF, facilitating early detection of tumours and thereby permitting more effective surgical intervention. In view of the reported loss of genes on chromosome 22 in meningiomas and acoustic neuromas, the genetic localization of the primary BANF defect strongly supports the concept that the disease locus encodes a 'tumour suppressor' gene. Isolation of this gene should provide insights into the pathogenesis of acoustic neuromas and other nervous system tumours, as well as into the control of proliferation and differentiation of neural crest cells.

Horner's syndrome: an atypical presentation in a child with neurofibromatosis type 2

“…2,3 Our outcomes were more positive, possibly as a result of these being newly diagnosed cases. This was achieved without fluorescein angiography.…”

“…2 It is characterized by bilateral vestibular schwannomas, that is, 'acoustic neuromas'. Other central nervous tumours may also occur, such as meningeomas of the brain, schwannomas of other cranial nerves, spinal nerve roots, and peripheral nerves and gliomas.…”

“…Further, early detection and treatment of eye manifestations may also lead to prevention of amblyopia. 2 VEGF plays a major role in mediating neovascularization in eyes with proliferative diabetic retinopathy (PDR). 3 We describe a patient who had dramatic regression of retinal neovascularization 1 week following adjunctive intravitreal bevacizumab.…”

The ninth Gordon Hamilton-Fairley memorial lecture: Hereditary cancers: clues to mechanisms of carcinogenesis

“…In this syndrome there is loss of heterozygosity for markers on chromosome lp, but not for markers on chromosome 10 (Mathew et al, 1987b). (Meese et al, 1987;Seizinger et al, 1986Seizinger et al, , 1987 (Rouleau et al, 1987). One patient who died with multiple meningiomas had a constitutional abnormality of chromosome 22 (Arinami et al, 1986).…”

Magnetic resonance findings of neurofibromatosis type 2: a case report

“…Male and female patients are approximately equally affected [3]. Until 1987 neurofibromatosis type 1 and 2 were considered one single disease, but it was then demonstrated that the two disorders arose from different mutations in different chromosomes [4]. NF2 is an inheritable disorder with an autosomal dominant mode of transmission, associated with chromosome 22q12 [5].…”