2. Academic Validation
  3. Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta

Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta

  • Am J Hum Genet. 2012 Sep 7;91(3):565-71. doi: 10.1016/j.ajhg.2012.07.020.
David A Parry 1,  Steven J Brookes,  Clare V Logan,  James A Poulter,  Walid El-Sayed,  Suhaila Al-Bahlani,  Sharifa Al Harasi,  Jihad Sayed,  El Mostafa Raïf,  Roger C Shore,  Mayssoon Dashash,  Martin Barron,  Joanne E Morgan,  Ian M Carr,  Graham R Taylor,  Colin A Johnson,  Michael J Aldred,  Michael J Dixon,  J Tim Wright,  Jennifer Kirkham,  Chris F Inglehearn,  Alan J Mighell
Affiliations

Affiliation

  • 1 Leeds Institute of Molecular Medicine, St. James's University Hospital, University of Leeds, LS9 7TF Leeds, UK.
PMID: 22901946 DOI: 10.1016/j.ajhg.2012.07.020
Abstract

Autozygosity mapping and clonal Sequencing of an Omani family identified mutations in the uncharacterized gene, C4orf26, as a cause of recessive hypomineralized amelogenesis imperfecta (AI), a disease in which the formation of tooth enamel fails. Screening of a panel of 57 autosomal-recessive AI-affected families identified eight further families with loss-of-function mutations in C4orf26. C4orf26 encodes a putative extracellular matrix acidic phosphoprotein expressed in the enamel organ. A mineral nucleation assay showed that the protein's phosphorylated C terminus has the capacity to promote nucleation of hydroxyapatite, suggesting a possible function in enamel mineralization during amelogenesis.

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