Patient CC7, had a de novo frameshift in PPP2R2B, a gene linked to spinocerebral ataxia, and inherited damaging alleles in the PPI pair THBS1 + COL7A1. Whether PPP2R2B will eventually confer the spinocerebral ataxia phenotype (late onset) to that patient and the CDD is caused by the variants in PPI is not known. The gene discussed is COL7A1; the disease is craniodiaphyseal dysplasia.