ArticleAmerican journal of human genetics2009
Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta.
Article in American journal of human genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 86 papers.
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Who cites it
86 citing papers in PubMed, 159 citations in OpenAlex.
- Role and relevance of genetic testing in patients with kidney stones: a review from EAU Section of Endourology.Current opinion in urology · 2026Review
- Renal cysts in WDR72-associated distal renal tubular acidosis: expanding the phenotypic spectrum.CEN case reports · 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
- 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
- Expert consensus on the diagnosis and management of tooth developmental anomalies.International journal of oral science · 2026Review
- 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
- When teeth and kidneys fail together: a case series of amelogenesis imperfecta-renal syndromes in childhood.The Pan African medical journal · 2025Article
- Orthodontic findings and treatment need in patients with amelogenesis imperfecta: a descriptive analysis.Head & face medicine · 2024Article
- The Rogdi knockout mouse is a model for Kohlschütter-Tönz syndrome.Scientific reports · 2024Article
- A novelJournal of dental sciences · 2024Article
- The pathophysiology of distal renal tubular acidosis.Nature reviews. Nephrology · 2023Review
- Organoids from mouse molar and incisor as new tools to study tooth-specific biology and development.Stem cell reports · 2023Article
- NovelJournal of personalized medicine · 2023Article
- Mechanistic insights into the primary and secondary alterations of renal ion and water transport in the distal nephron.Journal of internal medicine · 2023Review
- Article
- The implication of holocytochrome c synthase mutation in Korean familial hypoplastic amelogenesis imperfecta.Clinical oral investigations · 2022Article
- Identification of the C-terminal region in Amelogenesis Imperfecta causative protein WDR72 required for Golgi localization.Scientific reports · 2022Article
26 more citing papers are in PubMed but not listed here.
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Authors and funding
11 authors at 7 institutions in 4 countries.
Funding
Abstract
Healthy dental enamel is the hardest and most highly mineralized human tissue. Though acellular, nonvital, and without capacity for turnover or repair, it can nevertheless last a lifetime. Amelogenesis imperfecta (AI) is a collective term for failure of normal enamel development, covering diverse clinical phenotypes that typically show Mendelian inheritance patterns. One subset, known as hypomaturation AI, is characterised by near-normal volumes of organic enamel matrix but with weak, creamy-brown opaque enamel that fails prematurely after tooth eruption. Mutations in genes critical to enamel matrix formation have been documented, but current understanding of other key events in enamel biomineralization is limited. We investigated autosomal-recessive hypomaturation AI in a consanguineous Pakistani family. A whole-genome SNP autozygosity screen identified a locus on chromosome 15q21.3. Sequencing candidate genes revealed a point mutation in the poorly characterized WDR72 gene. Screening of WDR72 in a panel of nine additional hypomaturation AI families revealed the same mutation in a second, apparently unrelated, Pakistani family and two further nonsense mutations in Omani families. Immunohistochemistry confirmed intracellular localization in maturation-stage ameloblasts. WDR72 function is unknown, but as a putative beta propeller is expected to be a scaffold for protein-protein interactions. The nearest homolog, WDR7, is involved in vesicle mobilization and Ca2+-dependent exocytosis at synapses. Vesicle trafficking is important in maturation-stage ameloblasts with respect to secretion into immature enamel and removal of cleaved enamel matrix proteins via endocytosis. This raises the intriguing possibility that WDR72 is critical to ameloblast vesicle turnover during enamel maturation.
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