Affiliation:
1. Department of Periodontology, Nanjing Stomatological Hospital, Medical School of Nanjing University
2. BGI Genomics, BGI-Shenzhen
3. Academy for Advanced Interdisciplinary Studies, Peking University
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 (SOS1 and REST), 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 (ZNF862) was identified, and it is absent among the population as per the Genome Aggregation Database. The functional study supports a biological role of ZNF862 for increasing the profibrotic factors particularly COL1A1 synthesis and hence resulting in HGF. Here, for the first time we identify the physiological role of ZNF862 for the association with the HGF.
Funder
National Natural Science Foundation of China
Medical Science and Technology Development Foundation, Nanjing Department of Health
Nanjing Clinical Research Center for Oral Diseases, Nanjing Department of Health
Jiangsu Province Natural Science Foundation of China
Publisher
eLife Sciences Publications, Ltd
Subject
General Immunology and Microbiology,General Biochemistry, Genetics and Molecular Biology,General Medicine,General Neuroscience
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