NORTH-EAST ITALY REGISTRY OF NEUROFIBROMATOSIS TYPE-1 - EPIDEMIOLOGIC, GENETIC AND CLINICAL-STUDY

The present paper reports the results of an epidemiological, genetic and clinical study on neurofibromatosis type 1 (NF1). Data were obtained from the North East Italy NF1 Registry, established in 1980, which collects information on NF1 families referred for confirmation of diagnosis and for genetic counseling. The total sample includes 143 families with 148 probands and 220 affected individuals. A diagnostis protocol was applied including clinical and laboratory evaluations of all affected subjects and their first-degree relatives. The following estimates of NF1 parameters have been reported: 1) North East Italy incidence (1/4,292 inhabitants); 2) mutation rate (6.5/100,000 gametes/generation); 3) proportion of sporadic cases (56.3%); 4) frequency of diagnostic and associated clinical findings by age class.