ArticleJournal of dental research2019
WDR72 Mutations Associated with Amelogenesis Imperfecta and Acidosis.
Article in Journal of dental research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it, 49 citations in OpenAlex.
- Discovery and prioritization of genetic determinants of kidney function in 297,355 individuals from Taiwan and Japan.Nature communications · 2024Pooled it
- Renal cysts in WDR72-associated distal renal tubular acidosis: expanding the phenotypic spectrum.CEN case reports · 2026Article
- ODAPH (p.Arg77*) Phenotype and Onset of Ameloblast Pathology During Postsecretory Transition Demonstrated by FIB-SEM Analyses of OdaphCalcified tissue international · 2026Article
- WDR72 Drives Esophageal Squamous Cell Carcinoma Progression by Inhibiting Autophagy via the PI3K/Akt/mTOR Pathway.The Kaohsiung journal of medical sciences · 2026Article
- WDR72 Regulates Microtubule-Associated Vesicular miRNA Export in Ameloblasts During Enamel Maturation.Calcified tissue international · 2026Article
- NovelGenes · 2026Article
- Beyond expensive innovations: affordable and effective strategies for managing tubulopathies in adults.Clinical kidney journal · 2026Review
- WDR72 Is Required for Urinary Acidification and Normal HActa physiologica (Oxford, England) · 2026Article
- Mechanisms of primary failure of eruption: a new model of multidimensional framework.Progress in orthodontics · 2025Review
- Distal renal tubular acidosis and WDR72: some answers, more questions.Pediatric nephrology (Berlin, Germany) · 2025Article
- Clinical characteristics and genetic profile of children with WDR72-associated distal renal tubular acidosis: a nationwide experience.Pediatric nephrology (Berlin, Germany) · 2025Article
- Recent Developments in the Treatment of Pediatric Distal Renal Tubular Acidosis.Paediatric drugs · 2024Review
- Article
- Primary Failure Eruption: Genetic Investigation, Diagnosis and Treatment: A Systematic Review.Children (Basel, Switzerland) · 2023Review
- RecessiveJournal of personalized medicine · 2023Article
- Genetic Diagnosis and Treatment of Inherited Renal Tubular Acidosis.Kidney diseases (Basel, Switzerland) · 2023Review
- Failure to thrive in an 8-month-old female: Answers.Pediatric nephrology (Berlin, Germany) · 2023Article
- The pathophysiology of distal renal tubular acidosis.Nature reviews. Nephrology · 2023Review
- NovelJournal of personalized medicine · 2023Article
- Article
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 4 countries.
Funding
Abstract
Dental enamel malformations, or amelogenesis imperfecta (AI), can be isolated or syndromic. To improve the prospects of making a successful diagnosis by genetic testing, it is important that the full range of genes and mutations that cause AI be determined. Defects in WDR72 (WD repeat-containing protein 72; OMIM *613214) cause AI, type IIA3 (OMIM #613211), which follows an autosomal recessive pattern of inheritance. The defective enamel is normal in thickness, severely hypomineralized, orange-brown stained, and susceptible to attrition. We identified 6 families with biallelic WDR72 mutations by whole exome sequence analyses that perfectly segregated with the enamel phenotype. The novel mutations included 3 stop-gains [NM_182758.2: c.377G>A/p.(Trp126*), c.1801C>T/p.(Arg601*), c.2350A>T/p.(Arg784*)], a missense mutation [c.1265G>T/p.(Gly422Val)], and a 62,138-base pair deletion (NG_017034.2: g.35441_97578del62138) that removed WDR72 coding exons 3 through 13. A previously reported WDR72 frameshift was also observed [c.1467_1468delAT/p.(Val491Aspfs*8)]. Three of the affected patients showed decreased serum pH, consistent with a diagnosis of renal tubular acidosis. Percentiles of stature and body weight varied among 8 affected individuals but did not show a consistent trend. These studies support that WDR72 mutations cause a syndromic form of AI and improve our ability to diagnose AI caused by WDR72 defects.
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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.