Mutational analysis of patients with neurofibromatosis 2

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

OSTI ID:6872363

MacCollin, M; Ramesh, V; Pulaski, K; Trofatter, J A; Short, M P; Bove, C; Jacoby, L B; Louis, D N; Rubio, M P; Eldridge, R ^[1]

---

1. and others

Neurofibromatosis 2 (NF2) is a genetic disorder characterized by the development of multiple nervous-system tumors in young adulthood. The NF2 gene has recently been isolated and found to encode a new member, merlin, of the protein 4.1 family of cytoskeleton-associated proteins. To define the molecular basis of NF2 in affected individuals, the authors have used SSCP analysis to scan the exons of the NF2 gene from 33 unrelated patients with NF2. Twenty unique SSCP variants were seen in 21 patients; 10 of these individuals were known to be the only affected person in their kindred, while 7 had at least one other known affected relative. In all cases in which family members were available, the SSCP variant segregated with the disease; comparison of sporadic cases with their parents confirmed the de novo variants. DNA sequence analysis revealed that 19 of the 20 variants observed are predicted to lead to a truncated protein due to frameshift, creation of a stop codon, or interference with normal RNA splicing. A single patient carried a 3-bp deletion removing a phenylalanine residue. The authors conclude that the majority of NF2 patients carry an inactivating mutation of the NF2 gene and that neutral polymorphism in the gene is rare. 18 refs., 3 figs., 2 tabs.

• OSTI ID: 6872363
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 55:2; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
ANIMAL CELLS
BODY
DISEASES
DNA SEQUENCING
GENE MUTATIONS
MUTATIONS
NEOPLASMS
NERVOUS SYSTEM
ORGANS
SKELETON
STRUCTURAL CHEMICAL ANALYSIS