Mutation Analysis Of A Nuclear Pedigree With Non-Syndromic Hereditary Gingival Fibromatosis And Case Report

Objective:Whole exome sequencing(WES)was used to identify the pathogenic gene in a Chinese family with non-syndromic hereditary gingival fibromatosis(HGF),and Sanger sequencing was used to verify the mutation site and predict the three-dimensional structure of the protein,in order to find the novel pathogenic gene mutation site and provide reference for prenatal diagnosis of the family.Methods:Patients who visited the Department of Prosthodontics,the First Hospital of Shanxi Medical University due to gingival hyperplasia were collected.The medical history of present illness and family history were inquired in detail.Peripheral blood samples were collected from the proband and his parents to construct a DNA library.Whole exome sequencing was performed on the Illumina novaseq 6000 platform after library inspection.The massive sequencing results were compared with the human genome to screen mutant genes.Then the mutation genes including single nucleotide polymorphism(SNP),In Del and copy number mutation(CNV)were annotated by software,and the mutation detection results were compared with the online Mendelian Inheritance in Man database to screen out new pathogenic gene mutation sites and analyze their pathogenicity.Sanger sequencing was performed to verify the genetic mutation sites in the family,and Rose TTAFold software was used to predict the protein structure of the mutant gene.Results:Whole exome sequencing and multiple gene databases were used to screen and compare the possible REST gene mutations in a nuclear family with non-syndromic hereditary gingival fibromatosis.The mutation was c.2622＿2623del located in exon 4.The peak map of Sanger validation in the family showed that the proband and his mother had co-segregation and heterozygous loss of adenine and guanine at 2622 and 2623 loci.E874 fs protein was truncated,which may affect protein function.Conclusion:1.The c.2622＿2623del AG frameshift mutation in REST gene is the main cause of gingival hyperplasia in this family with non-syndromic hereditary gingival fibromatosis.2.The results of this study provide a reference for prenatal diagnosis of the newborn in this family,and expand the mutation spectrum of REST gene in non-syndromic hereditary gingival fibromatosis.Objective:To investigate the sequential treatment of erbium-neodymium laser resection of gingivalis in a patient diagnosed with non-syndromic hereditary gingival fibromatosis,in order to provide new clinical treatment ideas for the disease.Methods:A patient diagnosed as non-syndrome hereditary gingival fibromatosis was treated with sequential erbium-neodymium laser gingival resection.CBCT was taken before surgery to design the amount of gingival resection and make the gingival guide plate.During the operation,the gingival guide plate was positioned in the anterior teeth aesthetic area,and the erbium-neodymium laser was used to remove and shape the upper and lower gingiva.Results:One patient with non-syndromal hereditary gingival fibromatosis received sequential treatment of erbium-neodymium laser resection of gingival hyperplasia.Erbium-neodymium laser resection of hyperplastic gingiva can effectively reduce the surgical pain and postoperative adverse reactions,maintain oral hygiene and regular review,and there is no recurrence in one year after surgery.Conclusion:Sequential treatment based on erbium-neodymium laser resection of the gingivalis can achieve good therapeutic results for non-syndromic hereditary gingival fibromatosis,which provides a new treatment method and idea for the disease.