Characterization of six mutations in Exon 37 of neurofibromatosis type 1 gene
- Institute of Medical Genetics, Cardiff, Wales (United Kingdom)
Neurofibromatosis type 1 (NF1) is one of the most common inherited disorders, with an incidence of 1 in 3,000. We screened a total of 320 unrelated NF1 patients for mutations in exon 37 of the NF1 gene. Six independent mutations were identified, of which three are novel, and these include a recurrent nonsense mutation identified in 2 unrelated patients at codon 2281 (G2281X), a 1-bp insertion (6791 ins A) resulting in a change of TAG (tyrosine) to a TAA (stop codon), and a 3-bp deletion (6839 del TAC) which generated a frameshift. Another recurrent nonsense mutation, Y2264X, which was detected in 2 unrelated patients in this study, was also previously reported in 2 NF1 individuals. All the mutations were identified within a contiguous 49-bp sequence. Further studies are warranted to support the notion that this region of the gene contains highly mutable sequences. 17 refs., 2 figs., 1 tab.
- OSTI ID:
- 539397
- Journal Information:
- American Journal of Medical Genetics, Vol. 67, Issue 4; Other Information: PBD: 26 Jul 1996
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
BASIC STUDIES
GENES
GENE MUTATIONS
DNA SEQUENCING
TRANSCRIPTION
TISSUE DISTRIBUTION
GENETIC MAPPING
GENE REGULATION
MUTATION FREQUENCY
NERVOUS SYSTEM DISEASES
DISEASE INCIDENCE
PATIENTS
HEREDITARY DISEASES
SCREENING
HUMAN CHROMOSOME 17
EXONS
CODONS
GTP-ASES
RFLPS
POLYMERASE CHAIN REACTION
AMINO ACIDS
SPLICING
DOMINANT MUTATIONS
DNA-CLONING