ArticleHuman molecular genetics2015
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.
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Article in Human molecular genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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24citing papers in PubMed
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24 citing papers in PubMed, 48 citations in OpenAlex.
- TGFβ activity stabilizes ACC1 to increase de novo lipogenesis in metabolic liver disease.Molecular metabolism · 2026Article
- FAM20A Deficiency Drives Transcriptomic Dysregulation and Functional Impairment in Gingival Fibroblasts.Cell proliferation · 2026Article
- Combined Mutations of LTBP3 and COL5A1A in Geleophysic Dysplasia.Case reports in medicine · 2026Article
- The Mechanisms and Application Value of Postbiotics in Caries Prevention and Management.Oral health & preventive dentistry · 2024Review
- Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients.Heliyon · 2024Article
- Primary Failure Eruption: Genetic Investigation, Diagnosis and Treatment: A Systematic Review.Children (Basel, Switzerland) · 2023Review
- Dental characteristics of patients with four different types of skeletal dysplasias.Clinical oral investigations · 2023Article
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- Novel LTBP3 mutations associated with thoracic aortic aneurysms and dissections.Orphanet journal of rare diseases · 2021Article
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- A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant inGenes · 2021Article
- New gene discoveries in skeletal diseases with short stature.Endocrine connections · 2021Review
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- Genotype-phenotype correlation and expansion of orodental anomalies in LTBP3-related disorders.Molecular genetics and genomics : MGG · 2019Article
- Proteomic discovery of substrates of the cardiovascular protease ADAMTS7.The Journal of biological chemistry · 2019Article
- Genetic analysis: Wnt and other pathways in nonsyndromic tooth agenesis.Oral diseases · 2019Review
- A NewFrontiers in genetics · 2019Article
- LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections.American journal of human genetics · 2018Article
- Mapping genetic variants for cranial vault shape in humans.PloS one · 2018Article
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Authors and funding
36 authors at 16 institutions in 6 countries.
Mathilde HuckertUniversité de Strasbourg, Laboratoire de Génétique Médicale, INSERM UMR 1112, Faculté de Médecine, FMTS, 11 rue Humann 67000 Strasbourg, France Université de Strasbourg, Faculté de Chirurgie Dentaire, 8 rue St Elisabeth, 67000 Strasbourg, France Hôpitaux Universitaires de Strasbourg, Pôle de Médecine et Chirurgie Bucco-Dentaires, Reference Centre for Orodental Manifestations of Rare Diseases, CRMR, 1 place de l'Hôpital, 67000 Strasbourg, France.
Corinne StoetzelUniversité de Strasbourg, Laboratoire de Génétique Médicale, INSERM UMR 1112, Faculté de Médecine, FMTS, 11 rue Humann 67000 Strasbourg, France.
Supawich MorkmuedUniversité de Strasbourg, Faculté de Chirurgie Dentaire, 8 rue St Elisabeth, 67000 Strasbourg, France Université de Strasbourg, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CERBM, INSERM U 964, CNRS UMR 7104, 1 rue Laurent Fries, BP 10142, Illkirch 67404, France Faculty of Dentistry, Khon Kaen University, Khon Kaen, Thailand.
Virginie Laugel-HaushalterUniversité de Strasbourg, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CERBM, INSERM U 964, CNRS UMR 7104, 1 rue Laurent Fries, BP 10142, Illkirch 67404, France.
Véronique GeoffroyUniversité de Strasbourg, Laboratoire de Génétique Médicale, INSERM UMR 1112, Faculté de Médecine, FMTS, 11 rue Humann 67000 Strasbourg, France.
Jean MullerUniversité de Strasbourg, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CERBM, INSERM U 964, CNRS UMR 7104, 1 rue Laurent Fries, BP 10142, Illkirch 67404, France Université de Strasbourg, Laboratoire ICube UMR 7357, CNRS, LBGI, Strasbourg, France Hôpitaux Universitaires de Strasbourg, Laboratoire de Diagnostic Génétique, 1 place de l'Hôpital, 67000 Strasbourg, France.
François ClaussUniversité de Strasbourg, Faculté de Chirurgie Dentaire, 8 rue St Elisabeth, 67000 Strasbourg, France Université de Strasbourg, Osteoarticular and Dental Regenerative NanoMedicine, Inserm UMR 1109, 11 rue Humann 67000 Strasbourg, France Hôpitaux Universitaires de Strasbourg, Pôle de Médecine et Chirurgie Bucco-Dentaires, Reference Centre for Orodental Manifestations of Rare Diseases, CRMR, 1 place de l'Hôpital, 67000 Strasbourg, France.
Megana K PrasadUniversité de Strasbourg, Laboratoire de Génétique Médicale, INSERM UMR 1112, Faculté de Médecine, FMTS, 11 rue Humann 67000 Strasbourg, France.
Frédéric ObryUniversité de Strasbourg, Faculté de Chirurgie Dentaire, 8 rue St Elisabeth, 67000 Strasbourg, France Hôpitaux Universitaires de Strasbourg, Pôle de Médecine et Chirurgie Bucco-Dentaires, Reference Centre for Orodental Manifestations of Rare Diseases, CRMR, 1 place de l'Hôpital, 67000 Strasbourg, France.
Jean Louis RaymondUniversité de Strasbourg, Faculté de Chirurgie Dentaire, 8 rue St Elisabeth, 67000 Strasbourg, France.
Marzena SwitalaUniversité de Strasbourg, Faculté de Chirurgie Dentaire, 8 rue St Elisabeth, 67000 Strasbourg, France Hôpitaux Universitaires de Strasbourg, Pôle de Médecine et Chirurgie Bucco-Dentaires, Reference Centre for Orodental Manifestations of Rare Diseases, CRMR, 1 place de l'Hôpital, 67000 Strasbourg, France.
Yves AlembikHôpitaux Universitaires de Strasbourg, Service de Génétique Médicale, 1 place de l'Hôpital, 67000 Strasbourg, France.
Sylvie SoskinHôpitaux Universitaires de Strasbourg, Service de Pédiatrie 1, Endocrinologie Pédiatrique, 1 place de l'Hôpital, 67000 Strasbourg, France.
Eric MathieuUniversité de Strasbourg, Biomaterials and Bioengineering, Inserm UMR 1121, 11 rue Humann, 67000 Strasbourg, France.
Joseph HemmerléUniversité de Strasbourg, Biomaterials and Bioengineering, Inserm UMR 1121, 11 rue Humann, 67000 Strasbourg, France.
Jean-Luc WeickertUniversité de Strasbourg, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CERBM, INSERM U 964, CNRS UMR 7104, 1 rue Laurent Fries, BP 10142, Illkirch 67404, France.
Branka Brukner DabovicDepartment of Cell Biology, NYU Langone Medical Centre, New York, USA.
Daniel B RifkinDepartment of Cell Biology, NYU Langone Medical Centre, New York, USA.
Annelies DheedeneCenter for Medical Genetics, Ghent University, Ghent University Hospital, De Pintelaan 185, Ghent 9000, Belgium.
Eveline BoudinDepartment of Medical Genetics, University of Antwerp and Antwerp University Hospital, Prins Boudewijnlaan 43, Edegem 2650, Belgium.
Oana CaluseriuDepartment of Medical Genetics, Faculty of Medicine and Dentistry, University of Calgary, Alberta Children's Hospital, Calgary, AB, Canada.
Marie-Claude CholetteDepartment of Medical Genetics, Faculty of Medicine and Dentistry, University of Calgary, Alberta Children's Hospital, Calgary, AB, Canada.
Ross McleodDepartment of Medical Genetics, Faculty of Medicine and Dentistry, University of Calgary, Alberta Children's Hospital, Calgary, AB, Canada.
Reynaldo AntequeraDentistry Division, HC/FMUSP, São Paulo, Brazil.
Marie-Paule GelléFaculté d'Odontologie, Université de Reims Champagne-Ardenne, 2 rue du Général Koenig, Reims 51100, France Laboratoire EA 4691 'BIOS', 1, rue du Maréchal Juin, Reims 51100, France.
Jean-Louis CoeuriotFaculté d'Odontologie, Université de Reims Champagne-Ardenne, 2 rue du Général Koenig, Reims 51100, France.
Louis-Frédéric JacquelinFaculté d'Odontologie, Université de Reims Champagne-Ardenne, 2 rue du Général Koenig, Reims 51100, France.
Isabelle Bailleul-ForestierFaculty of Dentistry, Paul Sabatier University, LU51, Pôle Odontologie, Hôpitaux de Toulouse, 3 Chemin des Maraîchers, Toulouse, France.
Marie-Cécile ManièreUniversité de Strasbourg, Faculté de Chirurgie Dentaire, 8 rue St Elisabeth, 67000 Strasbourg, France Hôpitaux Universitaires de Strasbourg, Pôle de Médecine et Chirurgie Bucco-Dentaires, Reference Centre for Orodental Manifestations of Rare Diseases, CRMR, 1 place de l'Hôpital, 67000 Strasbourg, France.
Wim Van HulDepartment of Medical Genetics, University of Antwerp and Antwerp University Hospital, Prins Boudewijnlaan 43, Edegem 2650, Belgium.
Debora BertolaUnidade de Genética do Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo - Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil and.
Pascal DolléUniversité de Strasbourg, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CERBM, INSERM U 964, CNRS UMR 7104, 1 rue Laurent Fries, BP 10142, Illkirch 67404, France.
Alain VerloesDépartement de Génétique - Hôpital Robert Debré, CRMR 'Anomalies du Développement & Syndromes Malformatifs', CRMR 'Déficiences Intellectuelles de Causes Rares', 48 bd Sérurier, Paris 75019, France.
Geert MortierCenter for Medical Genetics, Ghent University, Ghent University Hospital, De Pintelaan 185, Ghent 9000, Belgium Department of Medical Genetics, University of Antwerp and Antwerp University Hospital, Prins Boudewijnlaan 43, Edegem 2650, Belgium.
Hélène DollfusUniversité de Strasbourg, Laboratoire de Génétique Médicale, INSERM UMR 1112, Faculté de Médecine, FMTS, 11 rue Humann 67000 Strasbourg, France Hôpitaux Universitaires de Strasbourg, Service de Génétique Médicale, 1 place de l'Hôpital, 67000 Strasbourg, France.
Agnès Bloch-ZupanUniversité de Strasbourg, Laboratoire de Génétique Médicale, INSERM UMR 1112, Faculté de Médecine, FMTS, 11 rue Humann 67000 Strasbourg, France Université de Strasbourg, Laboratoire de Génétique Médicale, INSERM UMR 1112, Faculté de Médecine, FMTS, 11 rue Humann 67000 Strasbourg, France Université de Strasbourg, Laboratoire de Génétique Médicale, INSERM UMR 1112, Faculté de Médecine, FMTS, 11 rue Humann 67000 Strasbourg, France agnes.bloch-zupan@unistra.fr.
Hôpitaux Universitaires de Strasbourg · FRUniversité de Strasbourg · FRUniversité de Reims Champagne-Ardenne · FRAlberta Children's Hospital · CAAntwerp University Hospital · BECentre National de la Recherche Scientifique · FRInserm · FRInstitut de génétique et de biologie moléculaire et cellulaire · FRNYU Langone Health · USGhent University Hospital · BEHôpital Robert-Debré · FRHospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo · BRLaboratoire de Génétique MédicaleUniversité Toulouse III - Paul Sabatier · FRUniversity of Antwerp · BEUniversity of Calgary · CA
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inherited dental malformations constitute a clinically and genetically heterogeneous group of disorders. Here, we report on four families, three of them consanguineous, with an identical phenotype, characterized by significant short stature with brachyolmia and hypoplastic amelogenesis imperfecta (AI) with almost absent enamel. This phenotype was first described in 1996 by Verloes et al. as an autosomal recessive form of brachyolmia associated with AI. Whole-exome sequencing resulted in the identification of recessive hypomorphic mutations including deletion, nonsense and splice mutations, in the LTBP3 gene, which is involved in the TGF-beta signaling pathway. We further investigated gene expression during mouse development and tooth formation. Differentiated ameloblasts synthesizing enamel matrix proteins and odontoblasts expressed the gene. Study of an available knockout mouse model showed that the mutant mice displayed very thin to absent enamel in both incisors and molars, hereby recapitulating the AI phenotype in the human disorder.
Indexed as
AdolescentAmelogenesis ImperfectaAnimalsBase SequenceChildConsanguinityDNA Mutational AnalysisFemaleFrameshift MutationGenetic Association StudiesHumansLatent TGF-beta Binding ProteinsMaleMiceMice, Inbred C57BLMice, KnockoutLatent TGF-beta Binding ProteinsLTBP3 protein, human
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