Bi-allelic variants in ERI1 including one missense variant lead to spondyloepimetaphyseal dysplasia. In a published cohort of 8 individuals with bi-allelic ERI1 variants, all probands had brachydactyly/clinodactyly/camptodactyly. Additional findings included cardiac anomalies, hydronephrosis, and developmental delay. Macrocytic anemia and congenital neutropenia were also noted in one individual and in Eri1 knock-out mice. Overall, the findings pointed to a ribosomopathy.
ERI1 Guo-Campeau type