ArticleBone2013
Novel ALPL genetic alteration associated with an odontohypophosphatasia phenotype.
Article in Bone, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 26 citations in OpenAlex.
- Tissue nonspecific and intestinal alkaline phosphatase crosstalk: a missing link in hypophosphatasia pathophysiology?Journal of translational medicine · 2026Article
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- A novel dominant negative variant ofJBMR plus · 2025Article
- Computational studies on the functional and structural impact of pathogenic mutations in enzymes.Protein science : a publication of the Protein Society · 2025Review
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- Establishment of human periodontal ligament cell lines withFrontiers in cell and developmental biology · 2025Article
- Hypoalkaline Phosphatemia Dental Type: A Case Report.Clinical medicine insights. Pediatrics · 2024Article
- The structural pathology for hypophosphatasia caused by malfunctional tissue non-specific alkaline phosphatase.Nature communications · 2023Article
- Systemic effects of hypophosphatasia characterization of two novel variants in theFrontiers in endocrinology · 2023Article
- TNAP as a New Player in Chronic Inflammatory Conditions and Metabolism.International journal of molecular sciences · 2021Review
- Loss-of-Function Mutations in the ALPL Gene Presenting with Adult Onset Osteoporosis and Low Serum Concentrations of Total Alkaline Phosphatase.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2020Article
- Clinical and genetic aspects of mild hypophosphatasia in Japanese patients.Molecular genetics and metabolism reports · 2019Article
- Four novel mutations in theBioscience reports · 2018Article
- Article
- The ever-expanding conundrum of primary osteoporosis: aetiopathogenesis, diagnosis, and treatment.Italian journal of pediatrics · 2014Review
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
Abstract
Hypophosphatasia (HPP) is an inherited disorder of mineral metabolism caused by mutations in ALPL, encoding tissue non-specific alkaline phosphatase (TNAP). Here, we report the molecular findings from monozygotic twins, clinically diagnosed with tooth-specific odontohypophosphatasia (odonto-HPP). Sequencing of ALPL identified two genetic alterations in the probands, including a heterozygous missense mutation c.454C>T, leading to change of arginine 152 to cysteine (p.R152C), and a novel heterozygous gene deletion c.1318_1320delAAC, leading to the loss of an asparagine residue at codon 440 (p.N440del). Clinical identification of low serum TNAP activity, dental abnormalities, and pedigree data strongly suggests a genotype-phenotype correlation between p.N440del and odonto-HPP in this family. Computational analysis of the p.N440del protein structure revealed an alteration in the tertiary structure affecting the collagen-binding site (loop 422-452), which could potentially impair the mineralization process. Nevertheless, the probands (compound heterozygous: p.[N440del];[R152C]) feature early-onset and severe odonto-HPP phenotype, whereas the father (p.[N440del];[=]) has only moderate symptoms, suggesting p.R152C may contribute or predispose to a more severe dental phenotype in combination with the deletion. These results assist in defining the genotype-phenotype associations for odonto-HPP, and further identify the collagen-binding site as a region of potential structural importance for TNAP function in the biomineralization.
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Registered trials
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