Novel WDR72 Mutation and Cytoplasmic Localization

LEE S. -., Seymen F., LEE K. -., KANG H. -., Yıldırım M. S., Tuna E. B., ...More

JOURNAL OF DENTAL RESEARCH, vol.89, no.12, pp.1378-1382, 2010 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 89 Issue: 12
  • Publication Date: 2010
  • Doi Number: 10.1177/0022034510382117
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1378-1382
  • Keywords: protein localization, enamel maturation, enamel, tooth, Amelogenesis imperfect, DOMINANT AMELOGENESIS IMPERFECTA, WD-REPEAT PROTEINS, FAM83H, FAMILIES, TEETH
  • Istanbul University Affiliated: Yes


The proven candidate genes for amelogenesis imperfecta (AI) are AMELX, ENAM, MMP20, KLK4, FAM83H, and WDR72. We performed mutation analyses on seven families with hypo-maturation AI. A novel WDR72 dinucleotide deletion mutation (g.57,426_57,427delAT; c.1467_1468delAT; p.V491fsX497) was identified in both alleles of probands from Mexico and Turkey. Haplotype analyses showed that the mutations arose independently in the two families. The disease perfectly segregated with the genotype. Only persons with both copies of the mutant allele were affected. Their hypomineralized enamel suffered attrition and orange-brown staining following eruption. Expression of WDR72 fused to green fluorescent protein showed a cytoplasmic localization exclusively and was absent from the nucleus. We conclude that WDR72 is a cytoplasmic protein that is critical for dental enamel formation.