ArticleClinical genetics2020
New missense variants in RELT causing hypomineralised amelogenesis imperfecta.
Article in Clinical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 21 citations in OpenAlex.
- The Interplay of Immune Response and Dental Enamel Formation in Health and Sickness.Advances in experimental medicine and biology · 2026Review
- Harnessing Nanopore Sequencing to Investigate the Epigenomic Landscape in Molar Incisor Hypomineralization-A Pilot Study.International journal of molecular sciences · 2025Article
- [Frameshift mutation inBeijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences · 2025Article
- Article
- Oro-dental phenotyping and report of three families with RELT-associated amelogenesis imperfecta.European journal of human genetics : EJHG · 2023Article
- The RELT Family of Proteins: An Increasing Awareness of Their Importance for Cancer, the Immune System, and Development.Biomedicines · 2023Review
- Article
- Delivering co-stimulatory tumor necrosis factor receptor agonism for cancer immunotherapy: past, current and future perspectives.Frontiers in immunology · 2023Review
- Integration of multimodal data in the developing tooth reveals candidate regulatory loci driving human odontogenic phenotypes.Frontiers in dental medicine · 2022Article
- ADAM10: Possible functions in enamel development.Frontiers in physiology · 2022Review
- A Novel De NovoGenes · 2021Article
- RELT stains prominently in B-cell lymphomas and binds the hematopoietic transcription factor MDFIC.Biochemistry and biophysics reports · 2020Article
- New missense variants in RELT causing hypomineralised amelogenesis imperfecta.Clinical genetics · 2020Article
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Authors and funding
10 authors at 3 institutions in 3 countries.
Funding
Abstract
Amelogenesis imperfecta (AI) is a heterogeneous group of genetic diseases characterised by dental enamel malformation. Pathogenic variants in at least 33 genes cause syndromic or non-syndromic AI. Recently variants in RELT, encoding an orphan receptor in the tumour necrosis factor (TNF) superfamily, were found to cause recessive AI, as part of a syndrome encompassing small stature and severe childhood infections. Here we describe four additional families with autosomal recessive hypomineralised AI due to previously unreported homozygous mutations in RELT. Three families carried a homozygous missense variant in the fourth exon (c.164C>T, p.(T55I)) and a fourth family carried a homozygous missense variant in the 11th exon (c.1264C>T, p.(R422W)). We found no evidence of additional syndromic symptoms in affected individuals. Analyses of tooth microstructure with computerised tomography and scanning electron microscopy suggest a role for RELT in ameloblasts' coordination and interaction with the enamel matrix. Microsatellite genotyping in families segregating the T55I variant reveals a shared founder haplotype. These findings extend the RELT pathogenic variant spectrum, reveal a founder mutation in the UK Pakistani population and provide detailed analysis of human teeth affected by this hypomineralised phenotype, but do not support a possible syndromic presentation in all those with RELT-variant associated AI.
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Registered trials
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