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Brief Communication

Nature Genetics 37, 934–935 (1 September 2005) | doi:10.1038/ng1625

The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J

Marieke Levitus , Quinten Waisfisz , Barbara C Godthelp , Yne de Vries , Shobbir Hussain , Wouter W Wiegant , Elhaam Elghalbzouri-Maghrani , J|[ucirc]|rgen Steltenpool , Martin A Rooimans , Gerard Pals , Fr|[eacute]| Arwert , Christopher G Mathew , Ma|[lstrok]|gorzata Z Zdzienicka , Kevin Hiom , Johan P De Winter & Hans Joenje

The protein predicted to be defective in individuals with Fanconi anemia complementation group J (FA-J), FANCJ, is a missing component in the Fanconi anemia pathway of genome maintenance. Here we identify pathogenic mutations in eight individuals with FA-J in the gene encoding the DEAH-box DNA helicase BRIP1, also called FANCJ.