Amelogenesis imperfectaGene: RELT
Comment on list classification: 3 cases with 3 different variants. Segregation of the variant with the disease. Mouse knockout shows a related phenotype.
21 Mar 2019, 10:49 a.m.
RELT is not associated with any phenotype in OMIM or Gene2Phenotype.
PMID: 30506946 - Kim et al 2019 - Three unrelated consanguineous Turkish families presenting with non‐syndromic hypomineralized AI underwent whole exome sequencing. 3 different variants identified; Family 1: frameshift mutation in RELT Exon 10 c.1169_1170delCT, p.Pro390fs*35. Family 2: RELT homozygous missense mutation in exon 11 c.1265G>C, p.Arg422Pro that co‐segregated with the AI phenotype. Family 3: affected children were homozygous for a RELT splice junction mutation in intron 3 (NC_000011.10: g.14394A>G; NM_032871.3: c.121‐2A>G). Relt −/− mice generated by CRISPR/Cas9 exhibited incisor and molar enamel malformations.
21 Mar 2019, 10:46 a.m.
PMID: 30506946 present evidence of three consanguineous Turkish families with irregular hypoplastic amelogenesis imperfecta. The authors also present a Relt-/- mouse model with incisor and molar enamel malformations. RELT should be included as a causative gene in diagnostic panels for AR AI in future.
11 Jan 2019, 11:26 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
amelogenesis imperfecta (hypoplastic)
Publications for gene: RELT were set to PMID: 30506946
Gene: relt has been classified as Green List (High Evidence).
gene: RELT was added gene: RELT was added to Amelogenesis imperfecta. Sources: Literature Mode of inheritance for gene: RELT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RELT were set to PMID: 30506946 Phenotypes for gene: RELT were set to amelogenesis imperfecta (hypoplastic) Penetrance for gene: RELT were set to Complete Review for gene: RELT was set to GREEN