Neurofibromatosis in the South African Indian community--further evidence for heterogeneity?
Wallis, C.E.; Slater, C.P.
South African Medical Journal 72(7): 478-480
1987
ISSN/ISBN: 0256-9574 PMID: 3116684 Document Number: 294401
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.