Overview of genetic defects in endocrinopathies in the island of cyprus; evidence of a founder effect

Christos Shammas, Vassos Neocleous, Meropi Toumba, Constantina Costi, Alexia A P Phedonos, Elisavet Efstathiou, Andreas Kyriakou, Leonidas A. Phylactou, Nicos Skordis

Research output: Contribution to journalReview articlepeer-review

14 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)1073-1079
Number of pages7
JournalGenetic Testing and Molecular Biomarkers
Issue number9
Publication statusPublished - 1 Sep 2012


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