Evidence map›Paper›PMID 37670079›Full record

ArticleEuropean journal of human genetics : EJHG2023

Oro-dental phenotyping and report of three families with RELT-associated amelogenesis imperfecta.

Kemelly Karolliny Moreira Resende, Margot Charlotte Riou, Paulo Marcio Yamaguti, Benjamin Fournier, Sophie Rondeau, Laurence Pacot, Ariane Berdal, Rufino Felizardo, Juliana Forte Mazzeu, Valérie Cormier-Daire and 3 more

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In one paragraph

Article in European journal of human genetics : EJHG, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.5field-weighted citation impact, top 31% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed, 2 citations in OpenAlex.

  1. Review
  2. Review
  3. [Frameshift mutation inBeijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences · 2025
    Article
  4. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors at 5 institutions in 2 countries.

Kemelly Karolliny Moreira ResendeLaboratory of Oral Histopathology, Faculty of Health Sciences, University of Brasilia, Brasilia, Brazil.
Margot Charlotte RiouReference Center of Oral and Dental Rare Diseases (O-Rares), Rothschild Hospital, Public Assistance- Paris Hospitals, Paris, France.ORCID 0000-0002-2352-0848
Paulo Marcio YamagutiLaboratory of Oral Histopathology, Faculty of Health Sciences, University of Brasilia, Brasilia, Brazil.
Benjamin FournierReference Center of Oral and Dental Rare Diseases (O-Rares), Rothschild Hospital, Public Assistance- Paris Hospitals, Paris, France.ORCID 0000-0003-4383-7524
Sophie RondeauReference Center for Skeletal Dysplasia, Service de Médecine Génomique des Maladies Rares, Necker Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
Laurence PacotService de Médecine Génomique des Maladies de Système et d'Organe, Fédération de Génétique et de Médecine Génomique, APHP.Centre - Université Paris Cité, Hôpital Cochin, Paris, France.ORCID 0000-0001-7969-0558
Ariane BerdalReference Center of Oral and Dental Rare Diseases (O-Rares), Rothschild Hospital, Public Assistance- Paris Hospitals, Paris, France.
Rufino FelizardoReference Center of Oral and Dental Rare Diseases (O-Rares), Rothschild Hospital, Public Assistance- Paris Hospitals, Paris, France.
Juliana Forte MazzeuLaboratory of Clinical Genetics, Faculty of Medicine, University of Brasília, Brasília, Brazil.
Valérie Cormier-DaireReference Center for Skeletal Dysplasia, Service de Médecine Génomique des Maladies Rares, Necker Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.ORCID 0000-0002-2839-9856
Céline GaucherService de Médecine Génomique des Maladies de Système et d'Organe, Fédération de Génétique et de Médecine Génomique, APHP.Centre - Université Paris Cité, Hôpital Cochin, Paris, France.
Ana Carolina Acevedo *Laboratory of Oral Histopathology, Faculty of Health Sciences, University of Brasilia, Brasilia, Brazil.
Muriel de La Dure-Molla *Reference Center of Oral and Dental Rare Diseases (O-Rares), Rothschild Hospital, Public Assistance- Paris Hospitals, Paris, France. muriel.deladure-molla@aphp.fr.ORCID 0000-0003-3557-2845
Inserm · FRUniversidade de Brasília · BRHôpital Necker-Enfants Malades · FRUniversité Paris Cité · FRCentre National de la Recherche Scientifique · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Amelogenesis imperfecta (AI) is a group of rare genetic conditions characterized by quantitative and/or qualitative tooth enamel alterations. AI can manifest as an isolated trait or as part of a syndrome. Recently, five biallelic disease-causing variants in the RELT gene were identified in 7 families with autosomal recessive amelogenesis imperfecta (ARAI). RELT encodes an orphan receptor in the tumor necrosis factor (TNFR) superfamily expressed during tooth development, with unknown function. Here, we report one Brazilian and two French families with ARAI and a distinctive hypomineralized phenotype with hypoplastic enamel, post-eruptive enamel loss, and occlusal attrition. Using Next Generation Sequencing (NGS), four novel RELT variants were identified (c.120+1G>A, p.(?); c.120+1G>T, p.(?); c.193T>C, p.(Cys65Arg) and c.1260_1263dup, p.(Arg422Glyfs*5)). Our findings extend the knowledge of ARAI dental phenotypes and expand the disease-causing variants spectrum of the RELT gene.

Indexed as

Amelogenesis ImperfectaBrazilHumansPedigreePhenotypeReceptors, Tumor Necrosis FactorReceptors, Tumor Necrosis FactorRELT

Identifiers

PMID37670079
PMCPMC10620165
OpenAlexW4386467201

What Socratic holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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 Socratic graph.