Article
RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1.
The Journal of clinical investigation - 1 Mar 2022
Abu-Libdeh Bassam, Jhujh Satpal S, Dhar Srijita, Sommers Joshua A, Datta Arindam, Longo Gabriel Mc, Grange Laura J, Reynolds John J, Cooke Sophie L, McNee Gavin S, Hollingworth Robert, Woodward Beth L, Ganesh Anil N, Smerdon Stephen J, Nicolae Claudia M, Durlacher-Betzer Karina, Molho-Pessach Vered, Abu-Libdeh Abdulsalam, Meiner Vardiella, Moldovan George-Lucian, Roukos Vassilis, Harel Tamar, Brosh Robert M, Stewart Grant S
Abstract excerpt
Despite being the first homolog of the bacterial RecQ helicase to be identified in humans, the function of RECQL1 remains poorly characterized. Furthermore, unlike other members of the human RECQ family of helicases, mutations in RECQL1 have not been associated with a genetic disease. Here, we identify 2 families with a genome instability disorder that we have named RECON (RECql ONe) syndrome, caused by biallelic...
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