Article
Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome.
American journal of human genetics - 1 Aug 2005
Beysen D, Raes J, Leroy B P, Lucassen A, Yates J R W, Clayton-Smith J, Ilyina H, Brooks S Sklower, Christin-Maitre S, Fellous M, Fryns J P, Kim J R, Lapunzina P, Lemyre E, Meire F, Messiaen L M, Oley C, Splitt M, Thomson J, Van de Peer Y, Veitia R A, De Paepe A, De Baere E
Abstract excerpt
The expression of a gene requires not only a normal coding sequence but also intact regulatory regions, which can be located at large distances from the target genes, as demonstrated for an increasing number of developmental genes. In previous mutation studies of the role of FOXL2 in blepharophimosis syndrome (BPES), we identified intragenic mutations in 70% of our patients. Three translocation breakpoints...
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