A mutation in the neurofibromatosis type 2 tumor-suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals

Journal Article · Fri Jul 01 04:00:00 EDT 1994 · American Journal of Human Genetics; (United States)

OSTI ID:6789408

Bourn, D; Carter, S A; Goodship, J; Strachan, T ^[1]; Evans, G R; Coakham, H

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1. Univ. of Newcastle upon Tyne (United Kingdom)

The authors have sought mutations in the recently identified neurofibromatosis type 2 (NF2) tumor-suppressor gene in a large panel of NF2 patients, using PCR-based SSCP and heteroduplex analysis, followed by cloning and sequencing of appropriate PCR products. Two unrelated NF2 patients were found to have identical nonsense mutations caused by a C-to-T transition in a CpG dinucleotide that is a potential mutational hot spot in the NF2 tumor-suppressor gene. Unexpectedly, the two individuals had widely different clinical phenotypes, representing the severe Wishart and mild Gardner clinical subtypes. Analysis of DNA samples from different tissues of the mildly affected patient suggests that he is a somatic mosaic for the mutation. 26 refs., 3 figs.

• OSTI ID: 6789408
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 55:1; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
CENTRAL NERVOUS SYSTEM
CLONING
DETECTION
DISEASES
DNA HYBRIDIZATION
DNA SEQUENCING
DNA-CLONING
GENE AMPLIFICATION
GENE MUTATIONS
GENES
HYBRIDIZATION
MUTATIONS
NEOPLASMS
NERVOUS SYSTEM
POLYMERASE CHAIN REACTION
STRUCTURAL CHEMICAL ANALYSIS