Essentials of Genetics 9th Edition by Michael Palladino William Klug, Michael Cummings, Charlotte Spencer

Exercise 3

Diamond Blackafan anemia (DBA) is a rare, dominantly inherited syndrome characterized by bone marrow failure, birth defects, and a significant predisposition to cancer. Those affected with DBA usually develop anemia in the first year of life, have abnormal numbers of cell types in their bone marrow, and have an increased risk of developing leukemia and bone cancer. At the molecular level,, DBA is caused by a mutation in any of 11 genes that encode ribosomal proteins. The common feature of all these mutations is the disruption of ribosome formation, ultimately affecting the stability or function of ribosome.
Many questions about this disorder remain to be answered.
DBA exhibits variable penetrance with significant differences in the clinical symptoms. How does this provide a way of studying the molecular events that cause this disorder?