Osteogenesis imperfecta type III: an ancient mutation in Africa?
In a survey of institutions for crippled persons in Zimbabwe, 58 patients with osteogenesis imperfecta (OI) were identified; 42 had the rare OI Type III. The Shona and Ndebele people, who comprise the major tribal groups in Zimbabwe, both had a similar and relatively high gene frequency for this disorder. Both tribes were derived from common progenitors, but until 150 years ago had been geographically separated for 2 millenia. Subsequently, they have remained culturally and socially distinct. The implications are that the mutation for OI III in Africa occurred at least 2,000 years ago.
Viljoen
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D
Department of Human Genetics, Medical School, University of Cape Town, South Africa.
Beighton
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P
D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D009154:Mutation; D010013:Osteogenesis Imperfecta / Q000145:classification / Q000000981:diagnostic imaging / Q000235:genetics*; D011247:Pregnancy; D011859:Radiography; D015030:Zimbabwe