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Von Recklinghausen neurofibromatosis type 1 (NF1) is an autosomal dominant disorder found in about 1 in 3000 people. It is characterized by peripheral neurofibromas, cafe-au-lait spots, learning disabilities, renal hypertension, and associated malignancies. Research teams led by White, one of the founders of the field of gene mapping, and by Collins, who recently discovered the cystic fibrosis gene, have independently discovered the gene that, when disrupted, leads to NF1.
Previous genetic mapping had narrowed the search for the gene to a particular spot on chromosome 17. The new research has identified the specific location of the gene and much of its nucleic acid sequence. In some patients, the gene is severed by a chromosomal translocatio…