Can mutations in the ribosomal protein S26 (RPS26) gene lead to Klippel-Feil syndrome in Diamond-Blackfan anemia patients? An update from the Czech Diamond-Blackfan Anemia registry.

摘要

For a decade, ribosomal proteins (RP) have attracted much attention from hematologists since a mutation in the RPS19 gene was first discovered in a Diamond-Blackfan anemia (DBA) patient DBA is a congenital red cell aplasia that is usually diagnosed during early infancy, and strikingly, in addition to defects in red cell maturation the disorder is associated with various physical anomalies in about 40% of patients (MIM# 105650) [ 1 ]. To date, heterozygous mutations in nine RP genes have been conclusively associated with DBA.