title: Overview of genetic defects in endocrinopathies in the island of Cyprus; evidence of a founder effect.
abstract: OBJECTIVE
  Hereditary endocrinopathies in Cyprus exhibit evidence of a founder effect and display the influence of past migration patterns. The genetic frequency and mutation pattern of a specific disorder of sex development (DSD), which is classified as 46,XX DSD or 46,XY DSD, and the non-classic form of congenital adrenal hyperplasia (NC-CAH) outline a type of genetic drift.
  
  
  RESULTS
  Not only the high prevalence of the NC-CAH p.V281L mutation but also the rarity of CAH large lesions present a genetic diversity similar to that observed in the Middle Eastern countries. In addition, both the high frequency of the 5-alpha steroid reductase deficiency (5αSRD) IVS1-2A>G mutation and the carrier frequency of the 17-beta hydroxysteroid dehydrogenase 3 (17β-HSD-3) p.R80Q mutation are good examples of a founder effect. p.R80Q can be considered a founder mutation, even though it has been identified in patients of Dutch, Brazilian, and Portuguese origin. This has led to the speculation that it has a Phoenician origin. Phoenicians as ancient traders migrated around 750 BC from present day Syria, Lebanon, and Israel toward Portugal, Spain, and also to nearby Cyprus. While the 5αSRD IVS1-2A>G mutation has already been extensively reported in Turkish patients, it is very common in the Eastern Mediterranean region.
  
  
  CONCLUSIONS
  This short article portrays clearly, through specific endocrine genetic disorders, the past migration trends in Cyprus that shaped the present-day gene pool of the Greek-Cypriot population.
authors.affiliation: Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
authors.forename: Christos
authors.initials: C
authors.lastname: Shammas
authors.forename: Vassos
authors.initials: V
authors.lastname: Neocleous
authors.forename: Meropi
authors.initials: M
authors.lastname: Toumba
authors.forename: Constantina
authors.initials: C
authors.lastname: Costi
authors.forename: Alexia A P
authors.initials: AA
authors.lastname: Phedonos
authors.forename: Elisavet
authors.initials: E
authors.lastname: Efstathiou
authors.forename: Andreas
authors.initials: A
authors.lastname: Kyriakou
authors.forename: Leonidas A
authors.initials: LA
authors.lastname: Phylactou
authors.forename: Nicos
authors.initials: N
authors.lastname: Skordis
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000453:epidemiology / Q000235:genetics; D003535:Cyprus; D012734:Disorders of Sex Development / Q000453:epidemiology / Q000235:genetics; D004700:Endocrine System Diseases / Q000145:classification / Q000453:epidemiology* / Q000235:genetics*; D005260:Female; D018703:Founder Effect; D006801:Humans; D008297:Male; D044465:White People / Q000235:genetics*