Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation

Conclusions
Overall, heterozygous pathogenic variants in ribosomal genes were identified in 44 of the 61 families (72%). De novo pathogenic variants were observed in 57% of patients with DBA. Ongoing studies of DBA genomics will be important to understand this complex disorder.

Source: Journal of Medical Genetics - May 26, 2017 Category: Genetics & Stem Cells Authors: Mirabello, L., Khincha, P. P., Ellis, S. R., Giri, N., Brodie, S., Chandrasekharappa, S. C., Donovan, F. X., Zhou, W., Hicks, B. D., Boland, J. F., Yeager, M., Jones, K., Zhu, B., Wang, M., Alter, B. P., Savage, S. A. Tags: New loci Source Type: research