RAD21

RAD21

RAD21 also forms part of the core cohesin complex (³⁴). Changes in RAD21 have been found in a small percentage (1-2%) of causes for CdLS. Individuals with changes in RAD21 are reported to have a non-classic CdLS phenotype (¹⁷,²⁴,³⁵). Both loss of function and missense mutations have been reported, as well as deletions within the RAD21 gene (³⁶). It is difficult to look at the relationship between this specific gene mutation and clinical characteristics due to the low number of individuals reported to have a mutation in the RAD21 gene.