Amelogenesis imperfecta
Gene: SLC24A4Comment when marking as ready: Marked as ready: October 19th 2017.Created: 19 Oct 2017, 9:18 a.m.
Comment on list classification: Updated rating from Red to Green: Green external review, and present on the Leeds diagnostic AI panel. Probable DD-G2P gene (from PMID:23375655, 2 cases) but there are a number of additional papers (PMIDs:24621671, 25442250, 24532815) plus functional studies (e.g. PMID:27129268) with so sufficient (>3) cases for AI causation.Created: 19 Oct 2017, 9:17 a.m.
PMID:24621671 (2014) identified a homozygous variant (A146V) in SLC24A4 in a 5.5 year old Turkish girl with AI. Her first-cousin parents were heterozygous for the variant.Created: 19 Oct 2017, 9:07 a.m.
Probable DD-G2P gene for AI based on PMID:23375655 (2013) who identified a homozygous variant in the SLC24A4 gene (R339X) in 3 affected cousins in a consanguineous Pakistani family segregating AI. By Sanger sequencing, they identified another homozygous variant (S499C) in 2 affected cousins in another Pakistani family. The variants were not present in 170 ethnically matched controls, in 70 Gujarati Indian samples, or in VCFs from the 1000 Genomes Project database.Created: 19 Oct 2017, 9:07 a.m.
Comment on mode of inheritance: Biallelic MOI supported by OMIM.Created: 19 Oct 2017, 9:01 a.m.
Currently on the Leeds AI diagnostic panel (Contact: Ruth Charlton). Mutations in SLC24A4 cause a hypomaturation/hypomineralised AI phenotype with autosomal recessive inheritance. Missense mutations affecting both alpha repeats and the cytoplasmic domain, as well as a nonsense mutation and a multi-exonic deletion, have been detected. See SLC24A4 LOVD: http://dna2.leeds.ac.uk/LOVD/genes/SLC24A4Created: 3 Aug 2017, 2:18 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Amelogenesis imperfecta, type IIA5 615887
Publications
This panel has been promoted after review by Claire Smith (Leeds) and further personal consultation with Dr Smith
This gene has been classified as Green List (High Evidence).
Publications for SLC24A4 were set to 24621671; 23375655; 25442250; 24532815; 26502894; 27129268
This gene has been classified as Green List (High Evidence).
Phenotypes for SLC24A4 were set to amelogenesis imperfecta (non-syndromic form); Amelogenesis imperfecta, type IIA5, 615887; hypomaturation/hypomineralised amelogenesis imperfecta
Mode of inheritance for SLC24A4 was changed to BIALLELIC, autosomal or pseudoautosomal
Publications for SLC24A4 were set to 24621671; 23375655; 25442250; 24532815; 26502894
SLC24A4 was added to Amelogenesis Imperfectapanel. Source: Radboud University Medical Center, Nijmegen
SLC24A4 was created by rfoulger
SLC24A4 was added to Amelogenesis Imperfectapanel. Sources: Other