CHARACTERIZATION OF 6 MUTATIONS IN EXON-37 OF NEUROFIBROMATOSIS TYPE-1 GENE

Neurofibromatosis type 1 (NF1) is one of the most common inherited dis orders, with an incidence of 1 in 3,000. We screened a total of 320 un related NF1 patients for mutations in exon 37 of the NF1 gene. Six ind ependent mutations were identified, of which three are novel, and thes e include a recurrent nonsense mutation identified in 2 unrelated pati ents at codon 2281 (G2281X), a l-bp insertion (6791 ins A) resulting i n a change of TAG (tyrosine) to a TAA (stop codon), and a 3-bp deletio n (6839 del TAG) which generated a frameshift, Another recurrent nonse nse mutation, Y2264X, which was detected in 2 unrelated patients in th is study, was also previously reported in 2 NF1 individuals, All the m utations were identified within a contiguous 49-bp sequence, Further s tudies are warranted to support the notion that this region of the gen e contains highly mutable sequences. (C) 1996 Wiley-Liss, Inc.