Format

Send to

Choose Destination
See comment in PubMed Commons below
J Dent Res. 2010 Jul;89(7):695-9. doi: 10.1177/0022034510365662. Epub 2010 May 3.

Altered enamelin phosphorylation site causes amelogenesis imperfecta.

Author information

1
Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, 1011 N. University, Ann Arbor, MI 48109-1078, USA.

Abstract

Defects in the enamelin gene (ENAM) cause amelogenesis imperfecta (AI). Our objective was to identify the genetic etiology of enamel hypoplasia in a Caucasian proband. Our hypothesis was that ENAM was defective. The proband and his father have an AG insertion (g.13185_13186insAG; p.422FsX448) in ENAM previously identified in AI kindreds from Slovenia and Turkey. The proband, his brother, and his mother have a novel missense mutation (g.12573C>T) that substitutes leucine for a phosphorylated serine (p.S216L) in the 32-kDa enamelin cleavage product. In this family, a defect in one ENAM allele caused minor pitting or localized enamel hypoplasia, whereas defects in both alleles caused severe enamel malformations, with little or no mineral covering dentin. Ser(216) is one of two serines on the 32-kDa enamelin that is phosphorylated by Golgi casein kinase and is thought to mediate calcium binding. We propose that phosphorylation of enamelin is critical for its function.

PMID:
20439930
PMCID:
PMC2889023
DOI:
10.1177/0022034510365662
[Indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Atypon Icon for PubMed Central
    Loading ...
    Support Center