ArticleJournal of endocrinological investigation2020
Hyperphosphatemic familial tumoral calcinosis caused by a novel variant in the GALNT3 gene.
Article in Journal of endocrinological investigation, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
7 citing papers in PubMed, 1 synthesis or guideline pooled it, 10 citations in OpenAlex.
- Clinical Characteristics, Therapeutic Options, and Outcomes in Hyperphosphatemic Tumoral Calcinosis: A Systematic Review.Calcified tissue international · 2024Pooled it
- A Large Deletion With a Large Impact: Homozygous 5,600 bp Deletion of theKidney medicine · 2026Article
- Genetics of glycosylation in mammalian development and disease.Nature reviews. Genetics · 2024Review
- Article
- A GALNT3 mutation causing Hyperphosphatemic familial Tumoral calcinosis.Molecular genetics and metabolism reports · 2024Article
- 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
- PolypeptideMolecules (Basel, Switzerland) · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimHyperphosphatemic familial tumoral calcinosis (HFTC) is a rare endocrine disorder caused by autosomal recessive variants in GALNT3, FGF23, and KL leading to progressive calcification of soft tissues and subsequent clinical effects. The aim of this was to study the cause of HFTC in an Iranian family. PATIENTS AND
methodsFour generations of a family with HFTC were studied for understanding the genetic pattern of the disease. Whole exome sequencing was applied on genomic DNA of the proband. Based on its result, genetically altered sequences were checked in his family through sanger sequencing. Then bioinformatics approaches as well as co-segregation analysis were applied to validate the genetic alteration.
resultsA novel homozygous variant in exon four of GALNT3, namely p.R261Q was found. The parents and sister were carriers.
conclusionTo our knowledge, it is the first-reported Iranian family with GALNT3-CDG novel variant.
Indexed as
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What OpenQuestion holds
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.