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Neurofibromatosis type 1 (NF1) affects about one person in 3500 and is one of the most common human autosomal dominant disorders. The gene is very large (60 exons spanning more than 300 kb of genomic DNA) and the mutation rate is high. Linkage analysis, used in many centres, is unhelpful for the 50% of cases arising from new mutations. Analysis of NF1 mRNA has demonstrated a variety of new and recurrent (previously recognised) mutations. Researchers in Spain studied 474 unrelated people with suspected NF1.
A firm clinical diagnosis was made in 201 of the 474 (42%). Mutational screening of the whole NF1 coding region was carried out using the cDNA-SSCP/HD approach and a total of 142 different NF1 mutations were identified in 189 patients. Of these 142 mutations 104 were previously undescribed and the remaining 38 were either already known or detected more than once in this study. Eighty five of the 189 patients with a NF1 mutation (45%) had one of the 38 recurrent mutations and the remaining 104 patients each had a unique, previously undescribed, mutation. About half of patients with NF1 harbour a mutation that would lead to a recurrent alteration in mRNA.
Rapid testing for recurrent mutations might form a first step in routine diagnosis.
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