Abstract:
:Using a heteroduplex approach and direct sequencing, we have completed the screening of approximately 88% of the neurofibromatosis type 2 (NF2)-coding sequence of DNA extracted from 33 schwannomas from NF2 patients and from 29 patients with sporadic schwannomas. The extensive screening has resulted in the identification of 33 unique mutations. Similarly to other human genes, we have shown that the CpG sites are more highly mutable in the NF2 gene. The frequency, distribution, and types of mutations were shown to differ between the sporadic and familial tumors. The majority of the mutations resulted in protein truncation and were consistent with more severe phenotype, however three missense mutations were identified during this study and were all associated with milder manifestations of the disease.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Welling DB,Guida M,Goll F,Pearl DK,Glasscock ME,Pappas DG,Linthicum FH,Rogers D,Prior TWdoi
10.1007/s004390050188subject
Has Abstractpub_date
1996-08-01 00:00:00pages
189-93issue
2eissn
0340-6717issn
1432-1203journal_volume
98pub_type
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