Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation

Herzog, Curtis; Reid, Brendan N.; Seymen, Figen; Koruyucu, Mine; Tuna, Elif Bahar; Simmer, James P.; Hu, Jan C.‐C.

doi:10.1016/j.oooo.2014.09.003

Cited by 31 publications

(32 citation statements)

References 41 publications

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“…It is expressed in the maturation stage of amelogenesis where the protein localizes along the ameloblast distal membrane next to the mineral layer (Wang et al, 2014). Some mutations in SLC24A4 are known to cause autosomal-recessive hypomaturation AI in humans without other noticeable phenotypic defects (Parry et al, 2013;Seymen et al, 2014;Wang et al, 2014;Herzog et al, 2015). Nevertheless, SLC24A4 null mice have reduced olfactory capacity (Stephan et al, 2012) and SLC24A4 transcripts are also abundant in the brain, lungs, aorta, and thymus of mouse (Li et al, 2002).…”

Section: Discussionmentioning

confidence: 99%

Inactivation of C4orf26 in toothless placental mammals

Springer

Starrett

Morin

et al. 2016

Molecular Phylogenetics and Evolution

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Previous studies have reported inactivated copies of six enamel-related genes (AMBN, AMEL, AMTN, ENAM, KLK4, MMP20) and one dentin-related gene (DSPP) in one or more toothless vertebrates and/or vertebrates with enamelless teeth, thereby providing evidence that these genes are enamel or tooth-specific with respect to their critical functions that are maintained by natural selection. Here, we employ available genome sequences for edentulous and enamelless mammals to evaluate the enamel specificity of four genes (WDR72, SLC24A4, FAM83H, C4orf26) that have been implicated in amelogenesis imperfecta, a condition in which proper enamel formation is abrogated during tooth development. Coding sequences for WDR72, SCL24A4, and FAM83H are intact in four edentulous taxa (Chinese pangolin, three baleen whales) and three taxa (aardvark, nine-banded armadillo, Hoffmann's two-toed sloth) with enamelless teeth, suggesting that these genes have critical functions beyond their involvement in tooth development. By contrast, genomic data for C4orf26 reveal inactivating mutations in pangolin and bowhead whale as well as evidence for deletion of this gene in two minke whale species. Hybridization capture of exonic regions and PCR screens provide evidence for inactivation of C4orf26 in eight additional baleen whale species. However, C4orf26 is intact in all three species with enamelless teeth that were surveyed, as well as in 95 additional mammalian species with enamel-capped teeth. Estimates of selection intensity suggest that dN/dS ratios on branches leading to taxa with enamelless teeth are similar to the dN/dS ratio on branches leading to taxa with enamel-capped teeth. Based on these results, we conclude that C4orf26 is tooth-specific, but not enamel-specific, with respect to its essential functions that are maintained by natural selection. A caveat is that an alternative splice site variant, which translates exon 3 in a different reading frame, is putatively functional in Catarrhini and may have evolved an additional role in this primate clade.

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Section: Discussionmentioning

confidence: 99%

Inactivation of C4orf26 in toothless placental mammals

Springer

Starrett

Morin

et al. 2016

Molecular Phylogenetics and Evolution

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“…In this study we have examined functional consequences of mutations in the SLC24A4 and SLC24A5 genes that have been reported for patients with AI (4,(11)(12)(13) and OCA (20), respectively. Five of the six mutations resulted in single residue substitutions in the mutant NCKX4 proteins that had no measurable functional activity in our transport assay, whereas in one case the mutant NCKX4 protein showed strongly reduced transport function (Fig.…”

Section: Discussionmentioning

confidence: 99%

“…Moreover, the highest SLC24A4 gene (accession number AF520705) transcript levels were observed in maturation-stage ameloblasts and the NCKX4 protein was localized at the apical pole suggesting that NCKX4 is a key Ca 2ϩ transporter during amelogenesis (10). The importance of the SLC24A4 gene is corroborated by recent genetic analyses linking three unique SLC24A4 missense mutations to amelogenesis imperfecta (AI) (4,(11)(12)(13), a genetic disease presented with abnormal teeth formation and development.…”

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confidence: 87%

A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism

Jalloul

Rogasevskaia

Szerencsei

et al. 2016

Journal of Biological Chemistry

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transport activity of WT and mutant NCKX4 proteins expressed in HEK293 cells. Three mutant NCKX4 cDNAs represent mutations found in the SCL24A4 gene and three represent mutations found in the SCL24A5 gene involving residues conserved between NCKX4 and NCKX5. Five mutant proteins had no observable NCKX activity, whereas one mutation resulted in a 78% reduction in transport activity. Total protein expression and trafficking to the plasma membrane (the latter with one exception) were not affected in the HEK293 cell expression system. We also analyzed two mutations in a Drosophila NCKX gene that have been reported to result in an increased susceptibility for seizures, and found that both resulted in mutant proteins with significantly reduced but observable NCKX activity. The data presented here support the genetic analyses that mutations in SLC24A4 and SLC24A5 are responsible for the phenotypic defects observed in human patients.

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“…In this case, root anomalies detected on dental radiographs led to a genetic consultation that resulted in the diagnosis and treatment of HFTC. In other cases such as generalized enamel malformations 29 or tooth agenesis and taurodontism, 30 a dental phenotype inspired the genetic consultation that resulted in a specific diagnosis.…”

Section: Discussionmentioning

confidence: 99%

Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC)

Vieira

Lee

Vairo

et al. 2015

Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology

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Hyperphosphatemic familial tumoral calcinosis (HFTC, OMIM #211900) is an autosomal recessive metabolic disorder characterized by hyperphosphatemia, tooth root defects, and the progressive deposition of calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone.1 In this HFTC case report, we document the dental phenotype associated with a homozygous missense mutation (g.29077 C>T; c.484 C>T; p.Arg162*) in GALNT3 (OMIM 6017563), a gene encoding UDP-GalNAc transferase 3 that catalyzes the first step of O-linked oligosaccharide biosynthesis in the Golgi. The medical and dental pathology is believed to be caused primarily by high serum phosphate levels (hyperphosphatemia), which, in turn, is caused by failure of GALNT3 to glycosylate the phosphate regulator protein FGF23, impairing its ability inhibit reabsorption of filtered phosphate in the kidneys.

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Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation

Cited by 31 publications

References 41 publications

Inactivation of C4orf26 in toothless placental mammals

Inactivation of C4orf26 in toothless placental mammals

A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism

Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC)

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