Figure 4.

Distribution of reported founder mutations in Europe The figure is based on available information referring to the following disorders: • Infantile cataracts due to galactokinase deficiency in Bulgaria [44], Austria [95], Switzerland [96], Italy [97], Hungary and Spain [our unpublished findings]. • Hereditary motor and sensory neuropathy - Lom in Bulgaria [37,38], Italy [68], Slovenia [69], Germany [70], Spain [71], France and Romania [55] and Hungary [our unpublished findings]. • Congenital cataracts facial dysmorphism neuropathy syndrome in Bulgaria [41,42], Romania, Hungary and the United States [our unpublished findings]. • Limb girdle muscular dystrophy type 2C in France, Spain, Italy, Germany [43], Portugal [91] and Bulgaria [65,66,93]. • Congenital myasthenia in Serbia, Macedonia, Greece, Bohemia and Germany [46]. • Hereditary motor and sensory neuropathy - Russe in Bulgaria [40], Romania and Spain [our unpublished findings]. The existing data are the product of ad-hoc collaborative studies and are not likely to represent the true spread of Romani founder mutations. The distribution of LGMD2C in Western Europe and in Bulgaria leads to the prediction that the disorder occurs and awaits detection along the entire European migration route, spanning the Balkans and Central Europe. Filling the gaps in the map will be particularly useful in the case of treatable disorders which are strong candidates for newborn screening, such as galactokinase deficiency and congenital myasthenia.

Kalaydjieva et al. BMC Medical Genetics 2001 2:5   doi:10.1186/1471-2350-2-5
Download authors' original image