Genetic analysis of hereditary gingival fibromatosis using whole exome sequencing and bioinformatics.
OBJECTIVES
Our study aims to identify genetic variants associated with hereditary gingival fibromatosis (HGF) by applying whole-exome sequencing (WES) and bioinformatics analyses such as gene set enrichment analysis (GSEA) and protein functional network study.


SUBJECTS AND METHODS
Two affected siblings whose grandparents and parents have normal gingiva were chosen for our investigation. Saliva collected from the patients and their parents were used for WES. GSEA and protein functional network study were performed to find gene groups in a biological coordination which are associated with HGF.


RESULTS
Genetic variants for homozygotes and compound heterozygotes were analyzed and translated into 845 genes. The result from protein functional network study showed that these genetic variants were mainly observed in genes affecting fibronectin as well as the immune and autoimmune system. Additionally, three mutated genes in our HGF patients, TMCO1, RIN2, and INSR, were found through human phenotype ontology (HPO) to have potential to contribute to gingival hyperplasia.


CONCLUSIONS
Genetic analysis of HGF in this study implicated mutations in fibronectin and the immune system as triggering abnormal gingival fibromatosis.
['Hwang|J|J|', 'Kim|Y-L|YL|', 'Kang|S|S|', 'Kim|S|S|', 'Kim|S-O|SO|', 'Lee|J H|JH|', 'Han|D-H|DH|']
D000293:Adolescent D015703:Antigens, CD D015220:Calcium Channels D002352:Carrier Proteins D002648:Child D059472:Exome D005260:Female D005351:Fibromatosis, Gingival D020022:Genetic Predisposition to Disease D014644:Genetic Variation D016678:Genome D020662:Guanine Nucleotide Exchange Factors D006801:Humans D008297:Male D008565:Membrane Proteins D010375:Pedigree D011972:Receptor, Insulin D016415:Sequence Alignment D017422:Sequence Analysis, DNA
hereditary gingival fibromatosis bioinformatics whole-exome sequencing fibronectin gingival hyperplasia