Agnès Bloch-Zupan

Agnès Bloch-Zupan
University of Strasbourg | UNISTRA · Faculty of Dental surgery

DDS PhD, HDR

About

138
Publications
23,645
Reads
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2,816
Citations
Citations since 2017
47 Research Items
1392 Citations
2017201820192020202120222023050100150200250
2017201820192020202120222023050100150200250
2017201820192020202120222023050100150200250
2017201820192020202120222023050100150200250
Additional affiliations
September 2004 - present
French National Centre for Scientific Research
Position
  • Professor (Full)
Description
  • CNRS UMR 7104 - Inserm U 964 1 rue Laurent Fries / BP 10142 / 67404 Illkirch CEDEX / France Tél +33 (0)3 88 65 32 00 / Fax +33 (0)3 88 65 32 01
September 2003 - present
October 2000 - August 2003
Great Ormond Street Hospital for Children NHS Foundation Trust
Position
  • Honorary Senior Lecturer/Consultant

Publications

Publications (138)
Article
Full-text available
Introduction Primary Failure of Eruption (PFE) is a rare condition affecting posterior teeth eruption resulting in a posterior open bite malocclusion. Differential diagnosis like ankylosis or mechanical eruption failure should be considered. For non-syndromic forms, mutations in PTH1R, and recently in KMT2C genes are the known etiologies. The aim o...
Chapter
This chapter is about dental developmental defects, regarding both the whole tooth as a unit and its hard dental tissues individually. Regarding the tooth anomalies like tooth number, size, and morphology, after shortly addressing dental development to introduce the reader into the biology and genetics of the disturbances, it presents possible caus...
Article
Full-text available
L'oligodontie est une anomalie rare dentaire de nombre. Il s'agit d'un trouble héréditaire caractérisé par l'agénésie de plus de 6 dents temporaires/permanentes, à l'exclusion des dents de sagesse. Non seulement le nombre, mais aussi le type de dents manquantes, doit être pris en compte. Les dents les plus fréquemment absentes sont les prémolaires...
Article
Full-text available
https://www.has-sante.fr/jcms/p_3284538/fr/amelogeneses-imparfaites. L’émail est la seule structure minéralisée de l’organisme composée de 96 à 98% de minéral sous forme de cristaux d’hydroxyapatite d’origine ectodermique. L’émail est mis en place par les améloblastes, cellules responsables de la sécrétion et de la maturation de l’émail, qui dispa...
Article
The Faculty of Dental Surgery of the University of Strasbourg would not be the great institute it is today if it were not for an admirable, or rather extraordinary, man: Robert Frank (May 21, 1924–August 7, 2020). He was the first dean of the Faculty of Dental Surgery at the University of Strasbourg, France. He was a dynamic and notorious leader. H...
Article
Full-text available
This paper reports the case of a Moroccan girl with a phenotype within the clinical spectrum of both Hallermann-Streiff (HSS, OMIM 234100) and Oculodentodigital Dysplasia (ODDD, OMIM 164200) syndromes. The patient presented with repeated dental abscesses and severe early childhood caries. She had no learning deficit nor psychomotor regression; howe...
Article
Full-text available
Biallelic loss‐of‐function variants in the thrombospondin‐type laminin G domain and epilepsy‐associated repeats (TSPEAR) gene have recently been associated with ectodermal dysplasia and hearing loss. The first reports describing a TSPEAR disease association identified this gene is a cause of nonsyndromic hearing loss, but subsequent reports involvi...
Article
Periodontal Ehlers-Danlos syndrome (pEDS) is a rare condition caused by pathogenic variants in the C1R and C1S genes, encoding subunits C1r and C1s of the first component of the classical complement pathway. It is characterized by early-onset periodontitis with premature tooth loss, pretibial hyperpigmentation and skin fragility. Rare arterial comp...
Article
Citation: Derruau, S.; Bouchet, J.; Nassif, A.; Baudet, A.; Yasukawa, K.; Lorimier, S.; Prêcheur, I.; Bloch-Zupan, A.; Pellat, B.; Chardin, H.; et al. COVID-19 and Dentistry in 72 Questions: An Overview of the Literature.
Article
Full-text available
The outbreak of Coronavirus Disease 2019 (COVID-19), caused by Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2), has significantly affected the dental care sector. Dental professionals are at high risk of being infected, and therefore transmitting SARS-CoV-2, due to the nature of their profession, with close proximity to the patient’s o...
Article
Full-text available
Secreted extracellular matrix components which regulate craniofacial development could be reactivated and play roles in adult wound healing. We report a patient with a loss-of-function of the secreted matricellular protein SMOC2 (SPARC related modular calcium binding 2) presenting severe oligodontia, microdontia, tooth root deficiencies, alveolar b...
Article
Full-text available
Fraser syndrome (FS) is a rare autosomal recessive multiple congenital malformation syndrome characterized by cryptophthalmos, cutaneous syndactyly, renal agenesis, ambiguous genitalia, and laryngotracheal anomalies. It is caused by biallelic mutations of FRAS1, FREM2, and GRIP1 genes, encoding components of a protein complex that mediates embryoni...
Chapter
Heimler syndrome is a rare syndrome associating sensorineural hearing loss with retinal dystrophy and amelogenesis imperfecta due to PEX1 or PEX6 biallelic pathogenic variations. This syndrome is one of the less severe forms of peroxisome biogenesis disorders. In this chapter, we will review clinical, biological, and genetic knowledges about the He...
Article
Full-text available
Dental anomalies occur frequently in a number of genetic disorders and act as major signs in diagnosing these disorders. We present definitions of the most common dental signs and propose a classification usable as a diagnostic tool by dentists, clinical geneticists, and other health care providers. The definitions are part of the series Elements o...
Article
Full-text available
Amelogenesis imperfecta (AI) is a heterogeneous group of rare inherited diseases presenting with enamel defects. More than 30 genes have been reported to be involved in syndromic or non-syndromic AI and new genes are continuously discovered (Smith et al., 2017). Whole-exome sequencing was performed in a consanguineous family. The affected daughter...
Article
Cathepsin C (CatC) is a cysteine protease involved in a variety of immune and inflammatory pathways such as activation of cytotoxicity of various immune cells. Homozygous or compound heterozygous variants in the CatC coding gene CTSC cause different conditions that have in common severe periodontitis. Periodontitis may occur as part of Papillon–Lef...
Article
Full-text available
Odontochondrodysplasia (ODCD) is an unresolved genetic disorder of skeletal and dental development. Here, we show that ODCD is caused by hypomorphic TRIP11 mutations, and we identify ODCD as the nonlethal counterpart to achondrogenesis 1A (ACG1A), the known null phenotype in humans. TRIP11 encodes Golgi-associated microtubule-binding protein 210 (G...
Chapter
Rare genetic disorders are often challenging to diagnose. Anomalies of tooth number, shape, size, mineralized tissue structure, eruption, and resorption may exist as isolated symptoms or diseases but are often part of the clinical synopsis of numerous syndromes (Bloch-Zupan A, Sedano H, Scully C. Dento/oro/craniofacial anomalies and genetics, 1st e...
Article
Rare genetic disorders are often challenging to diagnose. Anomalies of tooth number, shape, size, mineralized tissue structure, eruption, and resorption may exist as isolated symptoms or diseases but are often part of the clinical synopsis of numerous syndromes (Bloch-Zupan A, Sedano H, Scully C. Dento/oro/craniofacial anomalies and genetics, 1st e...
Article
Full-text available
In this study, we report a unique dominantly inherited disorganized supernumerary cusp and single root phenotype presented by 11 affected individuals belonging to 5 north-eastern Thai families. Using whole exome sequencing (WES) we identified a common single missense mutation that segregates with the phenotype in exon 6 of CACNA1S (Cav1.1) (NM_0000...
Data
Tooth cusp patterning defects found in affected families. The intraoral photographs and panoramic radiograph of affected daughter from family 1 (1_III.11) showed tooth morphology alteration especially multiple accessory cusps in both premolars (A–D) or upper (C) and lower (D) molars. Panoramic radiograph (B) showed root branching anomalies, with si...
Data
Sanger sequencing of CACNA1S exon 6 from 18 unaffected and unrelated Thai-patient controls originating from the same region as our index cases. None of the control samples presented the mutation, excluding a SNPs carried by individuals from this region.
Data
Estimation of family relationship inference for family 1, 2, and 3 by KING program. N_SNP: The number of SNPs that do not have missing genotypes in either of the individual, HetHet: Proportion of SNPs with double heterozygotes (e.g., AG and AG), IBS0: Proportion of SNPs with zero IBS (identical-by-state) (e.g., AA and GG), Kinship: Estimated kinshi...
Data
CACNA1S mutations and associated pathologies reported in the literature. The 43 CACNA1S known mutations according to HGMD are shown in this table.
Data
Human permanent teeth nomenclature. Numerotation designing human permanent teeth according to their type and location following the FDI two digits (No Authors, 1988) and ISO 3950:2016 (Dentistry — Designation system for teeth and areas of the oral cavity) recommendations. Ca, Canines; PreM, Premolars. The image is extracted from the D[4]/phenodent...
Data
Homozygosity regions detected in families 1–3. Homozygosity regions for the nine individuals analyzed by whole exome sequencing (1_II.11, 1_III.10, 2_II.5, 2_II.6, 2_III.6, 2_III.7, 3_II.1, 3_II.2) were reported in this table. No homozygosity region was common to all affected individuals (1_III.10, 2_II.5, 2_III.6, 2_III.7, 3_II.1, 3_II.2) suggesti...
Data
Common rare variants shared by affected individuals in the CACNA1S region. Both alleles of each individual are represented, the blue region on one allele of each affected individual corresponds to the region with common rare variants shared by all affected individuals. Affected individuals are in bold. The variant corresponding to the CACNA1S mutat...
Article
Full-text available
Background: Dental aberrations have been mentioned in relation to non-surgical hypoparathyroidism (Ns-HypoPT) and pseudohypoparathyroidism (PHP). However, a systematic review of dental characteristics have not been performed. The present systematic review describes the dental findings in patients with Ns-HypoPT and PHP. Methods: Studies on Ns-HypoP...
Article
Full-text available
Amelogenesis imperfecta (AI) designates a group of genetic diseases characterized by a large range of enamel disorders causing important social and health problems. These defects can result from mutations in enamel matrix proteins or protease encoding genes. A range of mutations in the enamel cleavage enzyme matrix metalloproteinase-20 gene (MMP20)...
Article
Dental anomalies exist in every subtype of hypophosphatasia (HPP), from the most severe to the most moderate, called odontohypophosphatasia. The forms are defined by the age at onset of the initial symptoms. These anomalies affect all dental mineralized tissues from enamel, dentin and cementum to alveolar bone in a gradient proportional to the seve...
Article
Full-text available
Latent-transforming growth factor beta-binding protein 3 (LTBP-3) is important for craniofacial morphogenesis and hard tissue mineralization, as it is essential for activation of transforming growth factor-β (TGF-β). To investigate the role of LTBP-3 in tooth formation we performed micro-computed tomography (micro-CT), histology, and scanning elect...
Data
Fig. S1. Anatomical landmarks used for morphometric analysis. Fig. S2. Form difference matrix analysis of skulls and mandibles. Fig. S3. Bar graph of mean enamel volume of WT vs. Ltbp3‐/‐ mutants. Fig. S4. Molar relationship classification: the wild‐type mice have molar class I occlusions (a normal occlusion), but Ltbp3‐/‐ mutants have a class I...
Article
WNT10A gene encodes a canonical wingless pathway signaling molecule involved in cell fate specification as well as morphogenetic patterning of the developing ectoderm, nervous system, skeleton, and tooth. In patients, WNT10A mutations are responsible for ectodermal-derived pathologies including isolated hypo-oligodontia, tricho-odonto-onycho-dermal...
Article
Full-text available
Abnormalities of enamel matrix proteins deposition, mineralization, or degradation during tooth development are responsible for a spectrum of either genetic diseases termed Amelogenesis imperfecta or acquired enamel defects. To assess if environmental/nutritional factors can exacerbate enamel defects, we investigated the role of the active form of...
Article
Background Kohlschütter–Tönz syndrome (KTZS) is a rare autosomal-recessive disease characterised by epileptic encephalopathy, intellectual disability and amelogenesis imperfecta (AI). It is frequently caused by biallelic mutations in ROGDI. Here, we report on individuals with ROGDI-negative KTZS carrying biallelic SLC13A5 mutations. Methods In the...
Poster
Background Primary immunodeficiencies (PIDs) are a heterogeneous group of more than 250 rare inherited disorders characterized by defects in one or more components of the immune system. They are associated with a wide array of clinical manifestations, the most characteristic feature being the increased susceptibility to recurrent infections. PID pa...
Article
Amelogenesis imperfecta (AI) is a clinically and genetically heterogeneous group of diseases characterized by enamel defects. The authors have identified a large consanguineous Moroccan family segregating different clinical subtypes of hypoplastic and hypomineralized AI in different individuals within the family. Using targeted next-generation sequ...
Chapter
Having clean, healthy teeth has been a desired outcome of numerous approaches that have been devised over the course of civilization. However, it has not been until that past few decades that we have seen incredible progress toward actually achieving this goal. The development of safe, modern toothpastes, coupled with active ingredients that target...
Article
Full-text available
A large family from a small village in Madagascar, Antanetilava, is known to present with coloured teeth. Through previous collaboration and 4 successive visits in 1994, 2004, 2005 and 2012, we provided dental care to the inhabitants and diagnosed dentinogenesis imperfecta. Recently, using whole exome sequencing we confirmed the clinical diagnosis...
Article
Background: Hypophosphatasia (HPP) is a rare inherited metabolic disease in which mutations in the ALPL gene (encoding tissue-nonspecific alkaline phosphatase) result in varying degrees of enzyme deficiency. HPP manifests in a spectrum of symptoms, including early primary tooth loss (root intact) and alveolar bone mineralisation defects. Objectiv...
Article
Full-text available
Background Orodental diseases include several clinically and genetically heterogeneous disorders that can present in isolation or as part of a genetic syndrome. Due to the vast number of genes implicated in these disorders, establishing a molecular diagnosis can be challenging. We aimed to develop a targeted next-generation sequencing (NGS) assay t...
Article
Full-text available
The question of phenotypic convergence across a signalling pathway has important implications for both developmental and evolutionary biology. The ERK-MAPK cascade is known to play a central role in dental development, but the relative roles of its components remain unknown. Here we investigate the diversity of dental phenotypes in Spry2−/−, Spry4−...
Article
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 f...
Conference Paper
http://onlinelibrary.wiley.com/doi/10.1111/ipd.2015.25.issue-s1/issuetoc
Article
Full-text available
Kohlschütter-Tönz Syndrome (KTZS) is an autosomal recessive disorder caused by mutations in the ROGDI gene. This syndrome is characterized by epilepsy, psychomotor regression and amelogenesis imperfecta. In this paper, we report a case of a 13-year-old Malian girl presenting with this rare disease. By genetic analysis, we identified a novel ROGDI h...
Article
Full-text available
Amelogenesis imperfecta (AI) is a genetically and clinically heterogeneous group of inherited dental enamel defects. Commonly described as an isolated trait, it may be observed concomitantly with other orodental and/or systemic features such as nephrocalcinosis in Enamel Renal Syndrome (ERS, MIM#204690), or gingival hyperplasia in Amelogenesis Impe...
Article
Background: MSX2 mutations are a very rare cause of craniosynostosis. Gain-of-function mutations may lead to the Boston-type craniosynostosis with limb defects and refraction errors, whereas loss-of-function mutations causes primary osseous defects such as enlarged parietal foramina. Materials and methods: Herein we report the case of a child wi...
Chapter
Dentin defects that accompany rare genetic diseases (diseases that by definition affect less than 1/2,000 individuals) can be described phenotypically by various types of anomalies that not only impair the formation and structure of the dentin and per se the color of the teeth but also cause anomalies of the crown, root, and/or pulp space shape and...
Article
Full-text available
The RSK2 gene is responsible for Coffin-Lowry syndrome, an X-linked dominant genetic disorder causing mental retardation, skeletal growth delays, with craniofacial and digital abnormalities typically associated with this syndrome. Craniofacial and dental anomalies encountered in this rare disease have been poorly characterized. We examined, using X...
Article
L'auteur souhaitait créer une bibliothèque d'objets virtuels. C'est un outil de formation et de recherche visant l'analyse des phénotypes bucco-dentaires. C'est une description très précise de la denture et de son architecture. Un thésaurus est utilisé. la collection du professeur Gorlin a été intégrée, essentiellement iconographique. On se connect...
Article
Background: Macrodontia or megadontia is a rare dental anomaly that refers to teeth that appear larger than normal. Generalised macrodontia may be associated with certain medical conditions and syndromes. Isolated macrodontia involves single teeth, might be the result of teeth fusion and is mainly seen in the incisor area. Case reports: This pap...
Article
Full-text available
In this article, we focus on hypomaturation autosomal-recessive-type amelogenesis imperfecta (type IIA2) and describe 2 new causal Matrix metalloproteinase 20 (MMP20) mutations validated in two unrelated families: a missense mutation p.T130I at the expected homozygous state, and a compound heterozygous mutation having the same mutation combined wit...
Article
Full-text available
Background One of the key questions in developmental biology is how, from a relatively small number of conserved signaling pathways, is it possible to generate organs displaying a wide range of shapes, tissue organization, and function. The dentition and its distinct specific tooth types represent a valuable system to address the issues of differen...
Article
Full-text available
Background Cockayne Syndrome CS (Type A – CSA; or CS Type I OMIM #216400) (Type B – CSB; or CS Type II OMIM #133540) is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral leukodystrophy, microcephaly, progressive pigmentar...
Data
Cephalometric analysis in norma frontalisof patient 16 (16.5 years). Correspondence of landmarks and measurements are detailed in Additional files 1 and 2 respectively. Reported to age related standards, transversal craniofacial hypodevelopment is patent).
Data
Definition of selected landmarks used in the cephalometric analysis in norma lateralis and frontalis.
Data