Clinics and genetic background of hereditary gingival fibromatosis

Abstract Background Hereditary gingival fibromatosis (HGF) is a rare condition characterized by slowly progressive overgrowth of the gingiva. The severity of overgrowth may differ from mild causing phonetic and masticatory issues, to severe resulting in diastemas or malposition of teeth. Both, autos...

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Autores principales:	Karolina Strzelec, Agata Dziedzic, Katarzyna Łazarz-Bartyzel, Aleksander M. Grabiec, Ewa Gutmajster, Tomasz Kaczmarzyk, Paweł Plakwicz, Katarzyna Gawron
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	Chromosome Gene Hereditary gingival fibromatosis Linkage analysis Pathogenic variant Whole-exome sequencing Medicine R
Acceso en línea:	https://doaj.org/article/f24f4174178a49f5860bbd5a79db7123
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spelling	oai:doaj.org-article:f24f4174178a49f5860bbd5a79db71232021-11-28T12:22:48ZClinics and genetic background of hereditary gingival fibromatosis10.1186/s13023-021-02104-91750-1172https://doaj.org/article/f24f4174178a49f5860bbd5a79db71232021-11-01T00:00:00Zhttps://doi.org/10.1186/s13023-021-02104-9https://doaj.org/toc/1750-1172Abstract Background Hereditary gingival fibromatosis (HGF) is a rare condition characterized by slowly progressive overgrowth of the gingiva. The severity of overgrowth may differ from mild causing phonetic and masticatory issues, to severe resulting in diastemas or malposition of teeth. Both, autosomal-dominant and autosomal-recessive forms of HGF are described. The aim of this review is a clinical overview, as well as a summary and discussion of the involvement of candidate chromosomal regions, pathogenic variants of genes, and candidate genes in the pathogenesis of HGF. The loci related to non-syndromic HGF have been identified on chromosome 2 (GINGF, GINGF3), chromosome 5 (GINGF2), chromosome 11 (GINGF4), and 4 (GINGF5). Of these loci, pathogenic variants of the SOS-1 and REST genes inducing HGF have been identified in the GINGF and the GINGF5, respectively. Furthermore, among the top 10 clusters of genes ranked by enrichment score, ATP binding, and fibronectin encoding genes were proposed as related to HGF. Conclusion The analysis of clinical reports as well as translational genetic studies published since the late’90s indicate the clinical and genetic heterogeneity of non-syndromic HGF and point out the importance of genetic studies and bioinformatics of more numerous unrelated families to identify novel pathogenic variants potentially inducing HGF. This strategy will help to unravel the molecular mechanisms as well as uncover specific targets for novel and less invasive therapies of this rare, orphan condition.Karolina StrzelecAgata DziedzicKatarzyna Łazarz-BartyzelAleksander M. GrabiecEwa GutmajsterTomasz KaczmarzykPaweł PlakwiczKatarzyna GawronBMCarticleChromosomeGeneHereditary gingival fibromatosisLinkage analysisPathogenic variant Whole-exome sequencingMedicineRENOrphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Chromosome Gene Hereditary gingival fibromatosis Linkage analysis Pathogenic variant Whole-exome sequencing Medicine R
spellingShingle	Chromosome Gene Hereditary gingival fibromatosis Linkage analysis Pathogenic variant Whole-exome sequencing Medicine R Karolina Strzelec Agata Dziedzic Katarzyna Łazarz-Bartyzel Aleksander M. Grabiec Ewa Gutmajster Tomasz Kaczmarzyk Paweł Plakwicz Katarzyna Gawron Clinics and genetic background of hereditary gingival fibromatosis
description	Abstract Background Hereditary gingival fibromatosis (HGF) is a rare condition characterized by slowly progressive overgrowth of the gingiva. The severity of overgrowth may differ from mild causing phonetic and masticatory issues, to severe resulting in diastemas or malposition of teeth. Both, autosomal-dominant and autosomal-recessive forms of HGF are described. The aim of this review is a clinical overview, as well as a summary and discussion of the involvement of candidate chromosomal regions, pathogenic variants of genes, and candidate genes in the pathogenesis of HGF. The loci related to non-syndromic HGF have been identified on chromosome 2 (GINGF, GINGF3), chromosome 5 (GINGF2), chromosome 11 (GINGF4), and 4 (GINGF5). Of these loci, pathogenic variants of the SOS-1 and REST genes inducing HGF have been identified in the GINGF and the GINGF5, respectively. Furthermore, among the top 10 clusters of genes ranked by enrichment score, ATP binding, and fibronectin encoding genes were proposed as related to HGF. Conclusion The analysis of clinical reports as well as translational genetic studies published since the late’90s indicate the clinical and genetic heterogeneity of non-syndromic HGF and point out the importance of genetic studies and bioinformatics of more numerous unrelated families to identify novel pathogenic variants potentially inducing HGF. This strategy will help to unravel the molecular mechanisms as well as uncover specific targets for novel and less invasive therapies of this rare, orphan condition.
format	article
author	Karolina Strzelec Agata Dziedzic Katarzyna Łazarz-Bartyzel Aleksander M. Grabiec Ewa Gutmajster Tomasz Kaczmarzyk Paweł Plakwicz Katarzyna Gawron
author_facet	Karolina Strzelec Agata Dziedzic Katarzyna Łazarz-Bartyzel Aleksander M. Grabiec Ewa Gutmajster Tomasz Kaczmarzyk Paweł Plakwicz Katarzyna Gawron
author_sort	Karolina Strzelec
title	Clinics and genetic background of hereditary gingival fibromatosis
title_short	Clinics and genetic background of hereditary gingival fibromatosis
title_full	Clinics and genetic background of hereditary gingival fibromatosis
title_fullStr	Clinics and genetic background of hereditary gingival fibromatosis
title_full_unstemmed	Clinics and genetic background of hereditary gingival fibromatosis
title_sort	clinics and genetic background of hereditary gingival fibromatosis
publisher	BMC
publishDate	2021
url	https://doaj.org/article/f24f4174178a49f5860bbd5a79db7123
work_keys_str_mv	AT karolinastrzelec clinicsandgeneticbackgroundofhereditarygingivalfibromatosis AT agatadziedzic clinicsandgeneticbackgroundofhereditarygingivalfibromatosis AT katarzynałazarzbartyzel clinicsandgeneticbackgroundofhereditarygingivalfibromatosis AT aleksandermgrabiec clinicsandgeneticbackgroundofhereditarygingivalfibromatosis AT ewagutmajster clinicsandgeneticbackgroundofhereditarygingivalfibromatosis AT tomaszkaczmarzyk clinicsandgeneticbackgroundofhereditarygingivalfibromatosis AT pawełplakwicz clinicsandgeneticbackgroundofhereditarygingivalfibromatosis AT katarzynagawron clinicsandgeneticbackgroundofhereditarygingivalfibromatosis
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Clinics and genetic background of hereditary gingival fibromatosis

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