Long-standing research at the University of Utah on the NF1 gene was expedited in 1987 by a group of medical statisticians led by Mark Skolnick, professor of medical informatics.
Collaborating with Dr. Raymond White's team, they discovered that the unknown gene causing NF1 was linked in a number of families to a marker on the central portion of chromosome 17. Chromosomes carry the inherited, genetic information that directs the activities of cells.White said a large family in Utah played an especially important role in that linkage study.
Focusing on two patients with NF1, the researchers found that their chromosome 17 had exchanged segments with other chromosomes, creating "breakpoints," which helped narrow the search. Using new microbiology techniques, the team discovered not one, but three genes.
Each was tested for evidence of mutations, but no consistent differences were detected. A fourth gene was finally identified.
White said the clue was provided by a section of genetic material disrupted by one of the two break points. By examining this section of genetic material, the U. investigators discovered that small pieces were missing from the genetic material of three NF1 patients. Subsequently, they found small deletions, or other changes, in coding regions of a cloned gene.
Although these mutations are very small, White said they cause serious enough errors to cause the neurofibromatosis.