Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region.
Thaís Fenz AraujoErlane Marques RibeiroAnderson Pontes ArrudaCarolina Araujo MorenoPaula Frassinetti Vasconcelos de MedeirosRenata Moldenhauer MinilloDébora Gusmão MeloChong Ae KimMaria Juliana Rodovalho DoriquiTêmis Maria FelixRodrigo Ambrosio FockDenise Pontes CavalcantiPublished in: European journal of medical research (2016)
The high frequency of pycnodysostosis in Ceará State is the consequence of the high inbreeding in that region. Several mutations, probably introduced a long time ago in Ceará, must have spread due to consanguineous marriages and internal population migration. However, the novel mutation seems to have a single origin in Ceará, suggestive of a founder effect.