ArticleAmerican journal of human genetics2017
REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.
Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 58 citations in OpenAlex.
- Hereditary gingival fibromatosis in children: a systematic review of the literature.Clinical oral investigations · 2021Pooled it
- Identification of a rare missense variant in the gene SPATA31H1 associated with hereditary gingival fibromatosis in a large Chinese family.BMC oral health · 2026Article
- Novel Pathogenic Variant Confirms the Association of REST and Jones Syndrome.Clinical genetics · 2026Article
- Curating genomic disease-gene relationships with Gene2Phenotype (G2P).Genome medicine · 2024Article
- The Complexity of Familial Inheritance in Pectus Excavatum: A Ten-Family Exome Sequencing Analysis.Genes · 2024Article
- Genetic Variants in theInternational journal of molecular sciences · 2024Article
- A Family Report of Hereditary Gingival Fibromatosis.Case reports in dentistry · 2024Article
- Surgical Management of Hereditary Gingival Fibromatosis: Case Series.Clinical, cosmetic and investigational dentistry · 2024Article
- Double heterozygous pathogenic mutations in KIF3C and ZNF513 cause hereditary gingival fibromatosis.International journal of oral science · 2023Article
- aenmd: annotating escape from nonsense-mediated decay for transcripts with protein-truncating variants.Bioinformatics (Oxford, England) · 2023Article
- The cause of Jones syndrome put to REST: a mutation in the REST gene causes gingival fibromatosis and hearing loss.European journal of human genetics : EJHG · 2023Article
- Pathogenic REST variant causing Jones syndrome and a review of the literature.European journal of human genetics : EJHG · 2023Review
- aenmd: Annotating escape from nonsense-mediated decay for transcripts with protein-truncating variants.bioRxiv : the preprint server for biology · 2023Article
- Case Report: Two clinical cases of Wilms tumor comorbid to gingival fibromatosis in young children with constitutionally mutatedFrontiers in oncology · 2023Article
- Article
- A novel geneeLife · 2022Article
- Identifying the focuses of hereditary gingival fibromatosis with bioinformatics strategies.American journal of translational research · 2022Article
- Clinics and genetic background of hereditary gingival fibromatosis.Orphanet journal of rare diseases · 2021Review
- A Monoallelic Variant inGenes · 2021Article
- Article
Corrections and comments
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Authors and funding
23 authors at 6 institutions in 3 countries.
Funding
Abstract
Hereditary gingival fibromatosis (HGF) is the most common genetic form of gingival fibromatosis that develops as a slowly progressive, benign, localized or generalized enlargement of keratinized gingiva. HGF is a genetically heterogeneous disorder and can be transmitted either as an autosomal-dominant or autosomal-recessive trait or appear sporadically. To date, four loci (2p22.1, 2p23.3-p22.3, 5q13-q22, and 11p15) have been mapped to autosomes and one gene (SOS1) has been associated with the HGF trait observed to segregate in a dominant inheritance pattern. Here we report 11 individuals with HGF from three unrelated families. Whole-exome sequencing (WES) revealed three different truncating mutations including two frameshifts and one nonsense variant in RE1-silencing transcription factor (REST) in the probands from all families and further genetic and genomic analyses confirmed the WES-identified findings. REST is a transcriptional repressor that is expressed throughout the body; it has different roles in different cellular contexts, such as oncogenic and tumor-suppressor functions and hematopoietic and cardiac differentiation. Here we show the consequences of germline final-exon-truncating mutations in REST for organismal development and the association with the HGF phenotype.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.