Characterization of six mutations in exon 37 of neurofibromatosis type 1 gene

✍ Scribed by Upadhyaya, Meena; Osborn, Mike; Maynard, Julie; Harper, Peter

• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 326 KB
• Volume: 67
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19960726)67:4<421::aid-ajmg20>3.0.co;2-k

✦ Synopsis

Neurofibromatosis type 1 ("1) 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 NFl 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.