Mutations in C4orf26, Encoding a Peptide with In Vitro Hydroxyapatite Crystal Nucleation and Growth Activity, Cause Amelogenesis Imperfecta

作者：Parry David A; Brookes Steven J; Logan Clare V; Poulter James A; El Sayed Walid; Al Bahlani Suhaila; Al Harasi Sharifa; Sayed Jihad; Raif El Mostafa; Shore Roger C; Dashash Mayssoon; Barron Martin; Morgan Joanne E; Carr Ian M; Taylor Graham R; Johnson Colin A; Aldred Michael J; Dixon Michael J; Wright J Tim; Kirkham Jennifer; Inglehearn Chris F; Mighell Alan J^*

来源：American Journal of Human Genetics, 2012, 91(3): 565-571.

DOI：10.1016/j.ajhg.2012.07.020

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%26apos;s phosphorylated C terminus has the capacity to promote nucleation of hydroxyapatite, suggesting a possible function in enamel mineralization during amelogenesis.

• 出版日期2012-9-7