Mutations in RELT cause autosomal recessive amelogenesis imperfecta.

Amelogenesis Imperfecta / diagnosis Consanguinity Genes, Recessive Genetic Association Studies Genetic Predisposition to Disease Genotype Germ-Line Mutation Humans In Situ Hybridization Mutation Pedigree Phenotype RNA Splicing Receptors, Tumor Necrosis Factor / genetics Exome Sequencing
Relt knockout amelogenesis imperfecta enamel hypomineralized tooth

Journal

Clinical genetics
ISSN: 1399-0004
Titre abrégé: Clin Genet
Pays: Denmark
ID NLM: 0253664

Informations de publication

Date de publication:
03 2019
Historique:
received: 26 10 2018
revised: 26 11 2018
accepted: 27 11 2018
pubmed: 7 12 2018
medline: 4 8 2020
entrez: 4 12 2018
Statut: ppublish

Résumé

Amelogenesis imperfecta (AI) is a collection of isolated (non-syndromic) inherited diseases affecting dental enamel formation or a clinical phenotype in syndromic conditions. We characterized three consanguineous AI families with generalized irregular hypoplastic enamel with rapid attrition that perfectly segregated with homozygous defects in a novel gene: RELT that is a member of the tumor necrosis factor receptor superfamily (TNFRSF). RNAscope in situ hybridization of wild-type mouse molars and incisors showed specific Relt mRNA expression by secretory stage ameloblasts and by odontoblasts. Relt

Identifiants

DOI: 10.1111/cge.13487 PMID: 30506946 PMC: PMC6392136
pubmed: 30506946
doi: 10.1111/cge.13487
pmc: PMC6392136
doi:

Substances chimiques

RELT 0
Receptors, Tumor Necrosis Factor 0

Types de publication

Journal Article Multicenter Study Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

375-383

Subventions

Organisme : NIDCR NIH HHS
ID : R01 DE015846
Pays : United States
Organisme : NIDCR NIH HHS
ID : R56 DE016276
Pays : United States

Informations de copyright

© 2018 The Authors. Clinical Genetics published by John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

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Auteurs

Jung-Wook Kim (JW)

Department of Pediatric Dentistry & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Republic of Korea.
Department of Molecular Genetics & the Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Republic of Korea.

Hong Zhang (H)

Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, Michigan.

Figen Seymen (F)

Department of Pedodontics, Faculty of Dentistry, Istanbul University, Istanbul, Turkey.

Mine Koruyucu (M)

Department of Pedodontics, Faculty of Dentistry, Istanbul University, Istanbul, Turkey.

Yuanyuan Hu (Y)

Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, Michigan.

Jenny Kang (J)

Department of Pediatric Dentistry & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Republic of Korea.

Youn J Kim (YJ)

Department of Molecular Genetics & the Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Republic of Korea.

Atsushi Ikeda (A)

Division of Biosciences, The Ohio State University, College of Dentistry, Columbus, Ohio.

Yelda Kasimoglu (Y)

Department of Pedodontics, Faculty of Dentistry, Istanbul University, Istanbul, Turkey.

Merve Bayram (M)

Department of Pedodontics, Faculty of Dentistry, Istanbul Medipol University, Istanbul, Turkey.

Chuhua Zhang (C)

Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, Michigan.

Kazuhiko Kawasaki (K)

Department of Anthropology, Penn State University, University Park, Pennsylvania.

John D Bartlett (JD)

Division of Biosciences, The Ohio State University, College of Dentistry, Columbus, Ohio.

Thomas L Saunders (TL)

Department of Internal Medicine, Division of Molecular, Medicine and Genetics, University of Michigan Medical School, Ann Arbor, Michigan.

James P Simmer (JP)

Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, Michigan.

Jan C-C Hu (JC)

Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, Michigan.

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Classifications MeSH

questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations du système stomatognathique › Malformations dentaires › Anomalies de développement de l'émail › Amélogenèse imparfaite › Mutations in RELT cause autosomal recessive...
questionsmedicales.fr › Phénomènes génétiques › Consanguinité › Mutations in RELT cause autosomal recessive...
questionsmedicales.fr › Phénomènes génétiques › Modes de transmission héréditaire › Gènes récessifs › Mutations in RELT cause autosomal recessive...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Études d'associations génétiques › Mutations in RELT cause autosomal recessive...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Mutations in RELT cause autosomal recessive...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Mutations in RELT cause autosomal recessive...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation germinale › Mutations in RELT cause autosomal recessive...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Mutations in RELT cause autosomal recessive...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Hybridation in situ › Mutations in RELT cause autosomal recessive...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutations in RELT cause autosomal recessive...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Pedigree › Mutations in RELT cause autosomal recessive...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Mutations in RELT cause autosomal recessive...
questionsmedicales.fr › Phénomènes génétiques › Régulation de l'expression des gènes › Maturation post-transcriptionnelle des ARN › Épissage des ARN › Mutations in RELT cause autosomal recessive...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Récepteurs de surface cellulaire › Récepteurs immunologiques › Récepteurs aux cytokines › Récepteurs aux facteurs de nécrose tumorale › Mutations in RELT cause autosomal recessive...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Séquençage du génome entier › Séquençage de l'exome › Mutations in RELT cause autosomal recessive...