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A Novel Gene ZNF862 Causes Hereditary Gingival Fibromatosis

By Juan Wu, Dongna Chen, Hui Huang, Ning Luo, Huishuang Chen, Junjie Zhao, Yanyan Wang, Yang Ren, Teng Zhai, Weibin Sun, Houxuan Li, Wei Li

Posted 01 May 2020
medRxiv DOI: 10.1101/2020.04.27.20080804

Hereditary gingival fibromatosis (HGF) is the most common genetic form of gingival fibromatosis which is featured as a localized or generalized overgrowth of gingivae. HGF is genetically heterogeneous and usually be transmitted as an autosomal-dominant inheritance pattern, also can be as autosomal-recessive or occur sporadically. Currently only two genes (SOS1 and REST), as well as four loci (2p22.1, 2p23.3 to p22.3, 5q13 to q22, and 11p15), have been identified as associated with HGF in a dominant inheritance pattern. Here we report thirteen individuals with autosomal-dominant non-syndromic HGF from a large 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 (NM_001099220.3: c.2812G>A) in zinc finger protein 862 gene (ZNF862) was identified, and it is absent among the population as reported from the Genome Aggregation Database, Exome Aggregation Consortium (ExAC) and 1000 Genomes. ZNF862 is a predicted intracellular protein which function is not yet identified, as a zinc finger protein it may be involved in transcriptional regulation. ZNF862 is expressed ubiquitously across tissues, it may play various roles under different physiological condition. Here for the first time we identify the physiological role of ZNF862 for the association with the HGF trait. Keyword: whole-exome sequencing; ZNF862; zinc finger protein; hereditary gingival fibromatosis; missense mutation

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