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. 2010 Dec;89(12):1378-82.
doi: 10.1177/0022034510382117. Epub 2010 Oct 11.

Novel WDR72 mutation and cytoplasmic localization

S-K Lee  1 , F Seymen, K-E Lee, H-Y Kang, M Yildirim, E Bahar Tuna, K Gencay, Y-H Hwang, K H Nam, R J De La Garza, J C-C Hu, J P Simmer, J-W Kim
Affiliations

Novel WDR72 mutation and cytoplasmic localization

S-K Lee et al. J Dent Res. 2010 Dec.

Abstract

The proven candidate genes for amelogenesis imperfecta (AI) are AMELX, ENAM, MMP20, KLK4, FAM83H, and WDR72. We performed mutation analyses on seven families with hypomaturation 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.

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Conflict of interest statement

The author(s) declare no potential conflicts of interest with respect to the authorship and/or publication of this article.

Figures

Figure 1.
Figure 1.
Family 1 pedigree and haplotypes; proband’s (III:1) oral photos and radiograph. (A) Pedigree of family 1. The haplotype of each individual is shown below the symbol. Red boxes indicate alleles harboring the mutation (key: T, thymine; C, cytosine; W, wild-type; M, mutant). (B) Frontal and lateral photographs of the proband (III:1) taken at age 10 yrs, 7 mos. (C) Dental panoramic radiograph of the proband (III:1) taken at age 6 yrs, 6 mos.
Figure 2.
Figure 2.
Family 1 affected sister (III:2). (A) Oral photo taken at age 5 yrs, 6 mos. (B) Oral photo taken at age 6 yrs, 6 mos. (C) Oral photos taken at age 8 yrs, 7 mos. (D) Panoramic radiograph taken at age 5 yrs, 6 mos. Note the progressive deterioration of the enamel crowns, especially in the occlusal and incisal regions following eruption into function.
Figure 3.
Figure 3.
Family 2 pedigree and haplotypes; proband’s (IV:3) oral photo and radiographs. (A) Pedigree of family 2. Haplotype of each individual is shown below the symbol. Red boxes indicate alleles harboring the mutation (key: T, thymine; C, cytosine; W, wild-type; M, mutant). (B) Frontal photograph of the proband (IV:3) at age 11 yrs. (C) Dental panoramic and intra-oral radiographs of the proband (IV:3) at age 11 yrs.
Figure 4.
Figure 4.
Analysis of intracellular localization. HEK293T cells transfected with pEGFP-C1 vectors expressing green fluorescent protein (GFP) alone and WDR72 fused to GFP (green). (A) Widespread GFP expression. (B) Nuclear Hoechst 33342 staining. (C) Overlapping image of (A) and (B). (D) Wild-type WDR72 localized in the cytoplasm. (E) Nuclear Hoechst 33342 staining. (F) Overlapping image of (D) and (E).
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