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Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta.

ABSTRACT: A combination of autozygosity mapping and exome sequencing identified a null mutation in SLC24A4 in a family with hypomineralized amelogenesis imperfect a (AI), a condition in which tooth enamel formation fails. SLC24A4 encodes a calcium transporter upregulated in ameloblasts during the maturation stage of amelogenesis. Screening of further AI families identified a missense mutation in the ion-binding site of SLC24A4 expected to severely diminish or abolish the ion transport function of the protein. Furthermore, examination of previously generated Slc24a4 null mice identified a severe defect in tooth enamel that reflects impaired amelogenesis. These findings support a key role for SLC24A4 in calcium transport during enamel formation.

SUBMITTER: Parry DA 

PROVIDER: S-EPMC3567274 | biostudies-literature | 2013 Feb

REPOSITORIES: biostudies-literature

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Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta.

Parry David A DA   Poulter James A JA   Logan Clare V CV   Brookes Steven J SJ   Jafri Hussain H   Ferguson Christopher H CH   Anwari Babra M BM   Rashid Yasmin Y   Zhao Haiqing H   Johnson Colin A CA   Inglehearn Chris F CF   Mighell Alan J AJ  

American journal of human genetics 20130131 2

A combination of autozygosity mapping and exome sequencing identified a null mutation in SLC24A4 in a family with hypomineralized amelogenesis imperfect a (AI), a condition in which tooth enamel formation fails. SLC24A4 encodes a calcium transporter upregulated in ameloblasts during the maturation stage of amelogenesis. Screening of further AI families identified a missense mutation in the ion-binding site of SLC24A4 expected to severely diminish or abolish the ion transport function of the prot  ...[more]

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