A novel gene ZNF862 causes hereditary gingival fibromatosis
- Medical School of Nanjing University, China
- BGI Genomics, China
- Peking University, China
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 thirteen 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.
Data availability
The sequencing data supporting this study have been deposited in the China Genebank Nucleotide Sequence Archive (https://db.cngb.org/cnsa, accession number CNP0000995).
Article and author information
Author details
Funding
National Natural Science Foundation of China (51772144)
- Houxuan Li
The funders had no role in study design, data collection and interpretation, or the decision to submit the work for publication.
Ethics
Human subjects: The usage and handling of human samples in this study was approved by the Institutional Review Board on Bioethics and Biosafety of BGI (IRB No. 19059) and the written informed consent obtained from each participant. Clinical investigation was performed in accordance with the Declaration of Helsinki.
Copyright
© 2022, Wu et al.
This article is distributed under the terms of the Creative Commons Attribution License permitting unrestricted use and redistribution provided that the original author and source are credited.
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A novel gene ZNF862 causes hereditary gingival fibromatosis
eLife 11:e66646.
https://doi.org/10.7554/eLife.66646
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