AIM: 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. CONCLUSION: 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.
AIM: 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-CAHp.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. CONCLUSION: 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: Meshael M Alswailem; Ohoud S Alzahrani; Lamyaa Alghofaili; Ebtesam Qasem; Mai Almohanaa; Afaf Alsagheir; Bassam Bin Abbas; Najya A Attia; Adnan Al Shaikh; Ali S Alzahrani Journal: Endocrine Date: 2018-09-29 Impact factor: 3.633
Authors: N Skordis; C Shammas; A A P Phedonos; A Kyriakou; M Toumba; V Neocleous; L A Phylactou Journal: J Endocrinol Invest Date: 2014-12-07 Impact factor: 4.256
Authors: Vassos Neocleous; Pavlos Fanis; Meropi Toumba; George A Tanteles; Melpo Schiza; Feride Cinarli; Nicolas C Nicolaides; Anastasis Oulas; George M Spyrou; Christos S Mantzoros; Dimitrios Vlachakis; Nicos Skordis; Leonidas A Phylactou Journal: Front Endocrinol (Lausanne) Date: 2020-08-28 Impact factor: 5.555
Authors: P Fanis; N Skordis; S Frangos; G Christopoulos; E Spanou-Aristidou; E Andreou; P Manoli; M Mavrommatis; S Nicolaou; M Kleanthous; M A Cariolou; V Christophidou-Anastasiadou; G A Tanteles; L A Phylactou; V Neocleous Journal: J Endocrinol Invest Date: 2018-02-02 Impact factor: 4.256