Novel WDR72 Mutation and Cytoplasmic Localization

Lee, S.-K.; Seymen, Figen; Lee, K.-E.; Kang, H.-Y.; Yıldırım, Mehmet; Tuna, Elif Bahar; Gençay, Koray; Hwang, Yong-Seung; Nam, Kee‐Hyun; Garza, Rene; Hu, Jan C.‐C.; Simmer, James P.; Kim, J.-W.

doi:10.1177/0022034510382117

Cited by 35 publications

(50 citation statements)

References 25 publications

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“…In contrast to the initial candidate genes for AI (e.g. AMELX, ENAM, KLK4, and MMP20 ) which encode for enamel matrix proteins, WDR72 was one of the genes that previously has not been expected to be involved in dental enamel formation [Lee et al, 2010]. It consists of 19 coding exons spanning around 250 kb [ElSayed et al, 2009].…”

Section: Discussionmentioning

confidence: 99%

“…It is localized in the cytoplasm [Lee et al, 2010] and is supposed to act as a scaffold for protein-protein interactions. El-Sayed et al [2009] hypothesized that WDR72 might play a role in calcium-dependent vesicle turnover, an important step in maturation-stage ameloblasts, but up to now there is no data to support this hypothesis.…”

Section: Discussionmentioning

confidence: 99%

“…WDR72 is expressed in multiple tissues with highest expression in bladder, kidney and mouth. Therefore, it is not clear yet why in a homozygous mutant state the only recognized pathologic phenotype is just isolated AI [Lee et al, 2010].…”

Section: Discussionmentioning

confidence: 99%

“…In isolated AI, mutations in at least 7 genes are known so far, allowing the identification of the underlying molecular etiology in about 40-50% of affected families [Lee et al, 2010;Chan et al, 2011;Wright et al, 2011]. Although the distribution of the different types of isolated AI depends on the population, AI due to recessive gene mutations seems to be very rare.…”

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A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature

et al. 2012

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Amelogenesis imperfecta (AI) is a clinically and genetically heterogeneous group of inherited defects of enamel formation. In isolated AI (no additional segregating features), mutations in at least 7 genes are known so far, causing dominant, recessive or X-linked AI and allowing the identification of the molecular etiology in 40–50% of affected families. We report on 2 siblings (an 11-year-old female and a 7-year-old male) born to consanguineous Turkish parents, with AI and mild, proportionate short stature. Both parents have normal teeth, but mother, maternal grandmother and great-grandfather are/were also of short stature. A spine X-ray performed in the girl excluded brachyolmia. Affymetrix GenomeWide SNP6.0 Array analysis identified no pathogenic copy number changes, but showed sharing of large homozygous regions, including chromosome band 15q21.3 containing the WDR72 gene. WDR72 sequence analysis in both siblings revealed homozygosity for a novel stop mutation in exon 10 (c.997A>T, p.Lys333X) explaining the AI phenotype. Mutations in WDR72 are a very rare cause of autosomal-recessive hypomaturation type of isolated AI. The mutation described in our patients specifies the diagnosis AI IIA3 and represents only the sixth WDR72 mutation reported so far. The WDR72 protein is critical for dental enamel formation, but its exact function is still unknown.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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confidence: 99%

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A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature

et al. 2012

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“…De acordo com a literatura, os principais genes envolvidos na formação do esmalte dentário são: amelogenina ligado ao X (AMELX), enamelina (ENAM), ameloblastina (AMBN), metaloprotease da matriz-20 (MMP-20) e calicreína-4 (KLK-4) (STEPHANOPOULOS; GAREFALAKI; LYROUDIA, 2005;WRIGHT et al, 2009;WRIGHT et al, 2011). Recentes análises genéticas têm identificado mutações em FAM83H (KIM et al, 2008), WDR72 (EL-SAYED et al, 2009;LEE et al, 2010), FAM20A (O'SULLIVAN et al, 2011CHO et al, 2012), C4orf26 (PARRY et al, 2012, SLC24A4 (PARRY et al, 2013), LAMB3 (KIM et al, 2013;POULTER et al, 2014b;WANG et al, 2015) e ITGB6 (POULTER et al, 2014a;WANG et al, 2014 Apesar dos defeitos na formação do esmalte dentário não compreenderem um problema de saúde pública, podem causar alterações estéticas graves, além de comprometerem as estruturas do esmalte. As formas severas podem levar à perda precoce do esmalte, causando desgaste acentuado com prejuízo da função do órgão dentário.…”

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Triagem de mutações e polimorfismos de genes candidatos à malformação dentária em pacientes com fissura labiopalatinas

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Novel FAM20A mutations in hypoplastic amelogenesis imperfecta

et al. 2011

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Amelogenesis imperfecta (AI) is a genetically and clinically heterogeneous group of inherited dental enamel defects without any other nonoral symptoms. Recently, a disease-causing nonsense mutation (c.406C>T) in a novel gene, FAM20A, was identified in a large consanguineous family affected by AI with gingival hyperplasia. We performed mutational analyses on nine AI families with similar phenotypes and identified three homozygous mutations (c.34_35delCT, c.813-2A>G, c.1175_1179delGGCTC) in three families and a compound heterozygous mutation (c.[590-2A>G] + [c.826C>T]) in one family. An in vitro splicing assay with a minigene confirmed the mutations located in the splicing acceptor site caused the deletion of exons 3 and 6, respectively. Taking into consideration the locations of the nonsense and frameshift mutations, the mutant transcripts are most likely degraded by nonsense-mediated mRNA degradation and it results in a loss of the FAM20A protein. This study confirms the importance of the FAM20A protein in enamel biomineralization as well as tooth eruption.

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Novel WDR72 Mutation and Cytoplasmic Localization

Abstract: A supplemental appendix to this article is published electronically only at http://jdr.sagepub.com/supplemental.

Cited by 35 publications

References 25 publications

A Novel Homozygous <b><i>WDR72</i></b> Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature

A Novel Homozygous <b><i>WDR72</i></b> Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature

Triagem de mutações e polimorfismos de genes candidatos à malformação dentária em pacientes com fissura labiopalatinas

Novel FAM20A mutations in hypoplastic amelogenesis imperfecta

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