ReviewBMC genetics2014
Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature.
Review in BMC genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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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.
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Who cites it
30 citing papers in PubMed, 55 citations in OpenAlex.
- A Large Deletion With a Large Impact: Homozygous 5,600 bp Deletion of theKidney medicine · 2026Article
- Inherited phosphate and pyrophosphate disorders: New insights and novel therapies changing the oral health landscape.Journal of the American Dental Association (1939) · 2024Review
- Structural and molecular imaging-based characterization of soft tissue and vascular calcification in hyperphosphatemic familial tumoral calcinosis.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2024Article
- A GALNT3 mutation causing Hyperphosphatemic familial Tumoral calcinosis.Molecular genetics and metabolism reports · 2024Article
- Article
- Recurrent Bilateral Lower Motor Neuron Type of Facial Palsy with Hearing Impairment: Hyperphosphatemic Familial Tumoral Calcinosis.Journal of pediatric genetics · 2023Article
- Hyperphosphatemia With Normal Kidney Function Associated With Genetic Variants ofKidney international reports · 2023Article
- Rare and Common Variants in GALNT3 May Affect Bone Mass Independently of Phosphate Metabolism.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2023Article
- A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of aClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2023Article
- PolypeptideMolecules (Basel, Switzerland) · 2021Review
- Bone Involvement in Hyperphosphatemic Familial Tumoral Calcinosis: A New Phenotypic Presentation.Rambam Maimonides medical journal · 2021Article
- Article
- A novel homozygous variant in exon 10 of theIntractable & rare diseases research · 2021Article
- Congenital Hyperphosphatemic Conditions Caused by the Deficient Activity of FGF23.Calcified tissue international · 2021Review
- Hyperphosphatemic familial tumoral calcinosis caused by a novel variant in the GALNT3 gene.Journal of endocrinological investigation · 2020Article
- The Role of Sclerostin in Bone and Ectopic Calcification.International journal of molecular sciences · 2020Review
- Molecular basis for fibroblast growth factor 23 O-glycosylation by GalNAc-T3.Nature chemical biology · 2020Article
- Hyperphosphatemic Tumoral Calcinosis: Pathogenesis, Clinical Presentation, and Challenges in Management.Frontiers in endocrinology · 2020Review
- Hyperphosphatemic Familial Tumoral Calcinosis in Two Siblings with a Novel Mutation inJournal of clinical research in pediatric endocrinology · 2019Article
- Congenital disorders of glycosylation.Annals of translational medicine · 2018Review
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHyperphosphatemic Familial Tumoral Calcinosis (HFTC) and Hyperphosphatemic Hyperostosis Syndrome (HHS) are associated with autosomal recessive mutations in three different genes, FGF23, GALNT3 and KL, leading to reduced levels of fibroblast growth factor 23 (FGF23) and subsequent clinical effects.
resultsWe describe a consanguineous family with two affected siblings with HFTC and HHS caused by a novel homozygous G-to T substitution in exon 3 of GALNT3 (c.767 G > T; p.Gly256Val), demonstrating great phenotypic variation and long asymptomatic intervals. Calcific tumors appeared at 14 years of age in the male, and the female displayed episodic diaphysitis from age 9 years. Symptoms of eye involvement were present in both from childhood, and progressed into band keratopathy in the female. Abnormal dental roots and tooth loss, as well as myalgia were present in both from their mid-twenties, while the female also had calcifications in the placenta, the iliac vessels and thyroid cartilage. New calcific tumors appeared more than 20 years after the initial episodes, delaying diagnosis and treatment until the ages of 37 and 50 years, respectively. Both siblings had elevated serum phosphate levels, inappropriately elevated tubular maximum phosphate reabsorption per unit glomerular filtration rate (TmP/GFR), reduced levels of intact FGF23 and increased levels of c-terminal FGF23. Review of all 54 previously published cases of GALNT3, FGF23, and KL associated HFTC and HHS demonstrated that more subjects than previously recognized have a combined phenotype.
conclusionWe have described HFTC and HHS in a consanguineous Caucasian family with a novel GALNT3 mutation, demonstrating new phenotypic features and significant variability in the natural course of the disease. A review of the literature, show that more subjects than previously recognized have a combined phenotype of HFTC and HHS. HHS and HFTC are two distinct phenotypes in a spectrum of GALNT3 mutation related calcification disorders, where the additional factors determining the phenotypic expression, are yet to be clarified.
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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.