Founder mutations

Feder JN, Tsuchihaslii Z> Irrinid A, Lee VIC, Mapa FA, Morikang E, et al. The hemochromatosis founder mutation in HLA-H disrupts B2-microglobulin interaction and ceU surface expression. J Biol Chem 1997 272 14025-8. 

Mefford HC, Baumbach L, Panguluri RC, Whitfield-Broome C, Szabo C, Smith S, et al. Evidence for a BRCAl founder mutation in families of West African ancestry. Am J Hum Genet 1999 65 575-8. 

This is a worldwide disorder and patients were diagnosed in many countries, including Europe, North and Middle America, and Africa (see below). Interestingly, the identification of patients with GNE myopathy comes mainly from two sources a Middle Eastern cluster with a single founder mutation and a "concentration" of cases in Japan which is composed... 

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