Article
Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families.
Blood - 3 Jul 2014
Mirabello Lisa, Macari Elizabeth R, Jessop Lea, Ellis Steven R, Myers Timothy, Giri Neelam, Taylor Alison M, McGrath Katherine E, Humphries Jessica M, Ballew Bari J, Yeager Meredith, Boland Joseph F, He Ji, Hicks Belynda D, Burdett Laurie, Alter Blanche P, Zon Leonard, Savage Sharon A
Abstract excerpt
Diamond-Blackfan anemia (DBA) is a cancer-prone inherited bone marrow failure syndrome. Approximately half of DBA patients have a germ-line mutation in a ribosomal protein gene. We used whole-exome sequencing to identify disease-causing genes in 2 large DBA families. After filtering, 1 nonsynonymous mutation (p.I31F) in the ribosomal protein S29 (RPS29[AUQ1]) gene was present in all 5 DBA-affected individuals and...
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