With the identification of the recurrent KCNQ1 variant P369L and the newly identified V185M variant, we confirm that specific heterozygous KCNQ1 missense variants (R116L, P369L and V185M) cause gingival overgrowth, with or without postnatal growth retardation (our data and [20]). The gene discussed is KCNQ1; the disease is gingival overgrowth.