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Three different premature stop codons lead to skipping of exon 7 in neurofibromatosis type I patients

✍ Scribed by Katharina Wimmer; Markus Eckart; Peter F. Stadler; Helga Rehder; Christa Fonatsch

Book ID
101344045
Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
171 KB
Volume
16
Category
Article
ISSN
1059-7794

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✦ Synopsis

Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder affecting one in 3,500 individuals. The mutation rate in the NF1 gene is one of the highest known for human genes. Compared to other methods, the protein truncation test (PTT) provides improved efficiency in detecting NF1 mutations which are dispersed throughout the gene which spans 350 kilobases of genomic DNA. We have applied the PTT and subsequent sequence analysis of cloned cDNA to identify mutations in NF1 patients. We report here the identification of two novel (W336X and Q315X), and one recurrent (R304X) mutation located in exon 7 and show that all three premature termination codons lead to skipping of exon 7 in a proportion of the transcripts derived from the mutated allele. Possible mutation-induced alterations of the RNA secondary structure and their impact on skipping of exon 7 of the NF1 gene are explored and discussed.

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