A novel gene <i>ZNF862</i> causes hereditary gingival fibromatosis.

Abstract

Hereditary gingival fibromatosis (HGF) is the most common genetic form of gingival fibromatosis which is featured as a localized or generalized overgrowth of gingivae. Currently two genes (<i>SOS1</i> and <i>REST</i>), as well as four loci (2p22.1, 2p23.3-p22.3, 5q13-q22, and 11p15), have been identified as associated with HGF in a dominant inheritance pattern. Here, we report 13 individuals with autosomal-dominant HGF from a four-generation Chinese family. Whole-exome sequencing followed by further genetic co-segregation analysis was performed for the family members across three generations. A novel heterozygous missense mutation (c.2812G > A) in zinc finger protein 862 gene (<i>ZNF862</i>) was identified, and it is absent among the population as per the Genome Aggregation Database. The functional study supports a biological role of <i>ZNF862</i> for increasing the profibrotic factors particularly COL1A1 synthesis and hence resulting in HGF. Here, for the first time we identify the physiological role of <i>ZNF862</i> for the association with the HGF.