ArticleCells, tissues, organs2011
Hypomaturation amelogenesis imperfecta due to WDR72 mutations: a novel mutation and ultrastructural analyses of deciduous teeth.
Article in Cells, tissues, organs, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 33 citations in OpenAlex.
- Differential diagnosis of molar incisor hypomineralisation and hypomineralised second primary molars: a scoping review.European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry · 2026Review
- WDR72 Is Required for Urinary Acidification and Normal HActa physiologica (Oxford, England) · 2026Article
- Truncated Variants in FAM20A and WDR72 Genes Underlie Autosomal Recessive Amelogenesis Imperfecta in Four Pakistani Families.Biochemical genetics · 2026Article
- Orthodontic findings and treatment need in patients with amelogenesis imperfecta: a descriptive analysis.Head & face medicine · 2024Article
- Article
- NovelJournal of personalized medicine · 2023Article
- Role of junctional epithelium in maintaining dento-gingival adhesion and periodontal health.Frontiers in dental medicine · 2023Review
- Article
- Identification of the C-terminal region in Amelogenesis Imperfecta causative protein WDR72 required for Golgi localization.Scientific reports · 2022Article
- WDR72 regulates vesicle trafficking in ameloblasts.Scientific reports · 2022Article
- Computational approach towards identification of pathogenic missense mutations inMolecular biology research communications · 2020Article
- WDR72 Mutations Associated with Amelogenesis Imperfecta and Acidosis.Journal of dental research · 2019Article
- Amelogenesis imperfecta: therapeutic strategy from primary to permanent dentition across case reports.BMC oral health · 2018Article
- Amelogenesis Imperfecta; Genes, Proteins, and Pathways.Frontiers in physiology · 2017Review
- Critical roles for WDR72 in calcium transport and matrix protein removal during enamel maturation.Molecular genetics & genomic medicine · 2015Article
- Novel ITGB6 mutation in autosomal recessive amelogenesis imperfecta.Oral diseases · 2015Article
- WDR72 models of structure and function: a stage-specific regulator of enamel mineralization.Matrix biology : journal of the International Society for Matrix Biology · 2014Article
- Spatiotemporal expression profile of a putative β propeller WDR72 in laying hens.Molecular biology reports · 2013Article
- A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature.Molecular syndromology · 2012Article
- Target gene analyses of 39 amelogenesis imperfecta kindreds.European journal of oral sciences · 2011Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundMutations in WDR72 have been identified in autosomal recessive hypomaturation amelogenesis imperfecta (AI).
objectiveto describe a novel WDR72 mutation and report the ultrastructural enamel phenotype associated with a different WDR72 mutation.
methodsA family segregating autosomal recessive hypomaturation AI was recruited, genomic DNA obtained and WDR72 sequenced. Four deciduous teeth from one individual with a previously published WDR72 mutation, extracted as part of clinical care, were subjected to scanning electron microscopy, energy-dispersive X-ray analysis and transverse microradiography.
resultsA novel homozygous nonsense mutation, R897X, was identified in WDR72 in a family originating from Pakistan. Ultrastructural analysis of enamel from the deciduous teeth of an AI patient with the WDR72 mutation S783X revealed energy-dispersive X-ray analysis spectra with normal carbon and nitrogen peaks, excluding retention of enamel matrix protein. However, transverse microradiography values were significantly lower for affected teeth when compared to normal teeth, consistent with reduced mineralisation. On scanning electron microscopy the enamel rod form observed was normal, yet with inter-rod enamel more prominent than in controls. This appearance was unaltered following incubation with either α-chymotrypsin or lipase.
conclusionsThe novel WDR72 mutation described brings the total reported WDR72 mutations to four. Analyses of deciduous tooth enamel in an individual with a homozygous WDR72 mutation identified changes consistent with a late failure of enamel maturation without retention of matrix proteins. The mechanisms by which intracellular WDR72 influences enamel maturation remain unknown.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.