Mendelian Diseases and Conditions in Croatian Island Populations: Historic Records and New Insights
View metadata, citation and similar papers at core.ac.uk brought to you by CORE Review Mendelian Diseases and Conditions in Croatian Island Populations: Historic Records and New Insights Vanja Saftić1, Diana Rudan2, Lina Zgaga3 1Department of Pediatrics, Osijek Among Croatian islands, there are several which are known for University School of Medicine, Croatia unusual autochthonous diseases and specific medical conditions 2Department of Internal Medicine, that result from the reproductive isolation and specific popula- Holy Ghost General Hospital, Zagreb, Croatia tion genetic structure. These populations are characterized by 3Department of Medical Statistics, high degree of genetic isolation, consanguinity, and inbreeding. Epidemiology, and Medical The reported diseases include Mal de Meleda on Mljet island, Informatics, Andrija Štampar School hereditary dwarfism on Krk island, familial learning disability of Public Health, Zagreb University on Susak island, familial ovarian cancer on Lastovo island, and School of Medicine, Croatia several other rare diseases and conditions inherited in Mende- lian fashion. We present a historical perspective on how these conditions were first described, interpreted, and assessed. We reviewed the information obtained through genetic research in the past several years, when the genetic etiology of some of these > Correspondence to: conditions was explained. The disease gene causing Mal de Me- Diana Rudan leda was first localized at 8q chromosome, and mutations in the Department of Internal ARS (component B) gene encoding SLURP-1 (secreted mam- Medicine General Hospital “Holy malian Ly-6/uPAR-related protein 1) protein were identified Ghost” subsequently. The genetic etiology of dwarfism on the island of Ulica Sveti Duh 64 Krk is explained by a mutation in the PROP1 gene, responsible 10000 Zagreb, Croatia for the short stature.
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