A Novel Gene ZNF 862 Causes Hereditary 1 Gingival Fibromatosis

30 Hereditary gingival fibromatosis (HGF) is the most common genetic form of gingival fibromatosis 31 which is featured as a localized or generalized overgrowth of gingivae. Currently two genes 32 (SOS1 and REST), as well as four loci (2p22.1, 2p23.3–p22.3, 5q13–q22, and 11p15), have been 33 identified as associated with HGF in a dominant inheritance pattern. Here we report thirteen 34 individuals with autosomal-dominant HGF from a four-generation Chinese family. Whole-exome 35 sequencing followed by further genetic co-segregation analysis was performed for the family 36 members across three generations. A novel heterozygous missense mutation (c.2812G>A) in zinc 37 finger protein 862 gene (ZNF862) was identified, and it is absent among the population as per the 38 Genome Aggregation Database. The functional study supports a biological role of ZNF862 for 39 increasing the profibrotic factors particularly COL1A1 synthesis and hence resulting in HGF. Here 40 for the first time we identify the physiological role of ZNF862 for the association with the HGF. 41 42