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

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

  • Am J Hum Genet. 2013 Feb 7;92(2):307-12. doi: 10.1016/j.ajhg.2013.01.003.
David A Parry 1,  James A Poulter,  Clare V Logan,  Steven J Brookes,  Hussain Jafri,  Christopher H Ferguson,  Babra M Anwari,  Yasmin Rashid,  Haiqing Zhao,  Colin A Johnson,  Chris F Inglehearn,  Alan J Mighell
Affiliations

Affiliation

  • 1 Leeds Institute of Molecular Medicine, St James's University Hospital, University of Leeds, Leeds, UK.
PMID: 23375655 DOI: 10.1016/j.ajhg.2013.01.003
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.

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