Neurofibromatosis in the South African Indian community--further evidence for heterogeneity?

Ninety-five members of three South African Indian families were examined for neurofibromatosis (NF) and 45 were deemed to be affected in terms of accepted diagnostic criteria. Analysis of the pedigrees revealed autosomal dominant inheritance with full penetrance. The absence of macromelanosomes in skin biopsies of café-au-lait macules and the failure to detect Lisch nodules (hamartomas of the iris) in this population group raises further evidence that NF might be a heterogeneous condition. The potential importance of heterogeneity in molecular linkage studies is emphasised.