Using a paradigm similar to the one employed by Crowe et al., this study was undertaken to determine the genetic characteristics of multiple neurofibromatosis in Korean people.
Thirty three subjects were used in this study. All subjects were identified through an examination of the records of all patients who had visited the Depart. ment of Dermatology of Chonnam Medical University Hospital between 1967 and 1976. Relatives of subjects were examined whenever possible.
The results of the study projected that the total number of persons in Chonnam Province afflicted with multiple neurofibromatosis lies somewhere between 880 and 16,500. Crowe estimated that between 2500 and 3300 patients could be found on Michigan´s lower peninsula. Sixty percent of this study´s subjects presented as sporadic patients, a condition thought to be the result of a genetic mutation. They had no blood relatives who demonstrated the disease.
Fifty percent of Crowe´s subjects were found to be sporadic patients, and a similar study by a Japanese investigator revealed a sporadic patient rate of sixty percent. In this study, the remaining 40% of the subject group conformed to the expected genetic frequency, thus pointing toward the fact that multiple neurofibromatosis is a highly penetrant autosomal dominant disease. This was demonstrated by the fact that, of the 79 offspring had by this group, 32 persons demonstrated multiple neurofibromatosis. This study also suggested somatic mutation in 3 of the 20 sporadic patients. Because this mutation did not occur at the germinal level, the patient is much less likely to transmit this disease to his offspring. One patient showed the usual clinical and family traits but the chromosome analysis was negative. Genetic issues associated with multiple neurofibromatosis are also discussed in this study.
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