You don't need to be signed in to read BMJ Blogs, but you can register here to receive updates about other BMJ products and services via our site.

Novel and known ribosomal causes of Diamond-Blackfan anemia identified through comprehensive genomic characterization

9 Mar, 17 | by hqqu

Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome primarily caused by defects in ribosome biology. It is associated with physical anomalies and high risk of specific cancers. We performed comprehensive genomic analyses of 35 genetically uncharacterized DBA families participating in the National Cancer’s Institute’s DBA cohort (ClinicalTrials.gov Identifier: NCT00027274). Using whole exome sequencing, copy number variation and array comparative genomic hybridization, we discovered variants in two genes not previously associated with DBA, RPL18 and RPL35. These variants caused characteristic ribosome assembly defects consistent with the DBA biology. Overall, this combination of genomic methods led to the identification the causative variant in 72% of the cohort. Efforts are underway to identify the underlying genetic cause of DBA in the remaining families. (By Dr. Payal P. Khincha, http://jmg.bmj.com/content/early/2017/03/09/jmedgenet-2016-104346 )

By submitting your comment you agree to adhere to these terms and conditions
You can follow any responses to this entry through the RSS 2.0 feed.
JMG blog homepage

JMG Contact

Research developments and evidence-based medical genetics. Visit site



Creative Comms logo

Latest from Journal of Medical Genetics

Latest from Journal of Medical Genetics