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.
Highlights
Autozygosity mapping and clonal sequencing of an Omani family identified mutations in the uncharacterized gene, C4orf[26], as a cause of recessive hypomineralized amelogenesis imperfecta (AI), a disease in which the formation of tooth enamel fails
Enamel formation involves biomineralization of an ephemeral protein extracellular matrix secreted by ameloblasts
Classification into hypoplastic or hypomineralized AI distinguishes forms with either diminished enamel volume or near-normal enamel volumes and poor mineralization leading to abnormally soft enamel, respectively
Summary
Autozygosity mapping and clonal sequencing of an Omani family identified mutations in the uncharacterized gene, C4orf[26], as a cause of recessive hypomineralized amelogenesis imperfecta (AI), a disease in which the formation of tooth enamel fails. The first, a homozygous missense change (c.95C>A [p.Pro32His]; RefSeq accession number NM_000670.3) in ADH4 (MIM 103740), was subsequently shown to be heterozygous in affected individual IV:[8] by Sanger sequencing, suggesting a modest refinement of the candidate region.
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