To our knowledge, this is one of the first reports of DNV excess in PABPC1; however, four DD cases with dnMIS variants clustered in PABPC1 were reported recently (47), which found that PABPC1 variants decreased binding affinity to messenger RNA metabolism-related proteins, such as PAIP2, and Pabpc1 knockdown in mice decreased the proliferation of neural progenitor cells, supporting our finding of PABPC1 DNV excess in NDDs. Here, PAIP2 is linked to dentin dysplasia.