ArticleFrontiers in genetics2025
Case report: Clinical and genetic characteristics of heterozygous CaSR variants in three Chinese females with familial hypocalciuric hypercalcemia type 1: a report of three cases.
Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant disorder and represents a rare cause of hypercalcemia. It stems from variants in the calcium-sensing receptor gene (CaSR), G-protein subunit alpha11 gene (GNA11), or adaptor-related protein complex 2 gene (AP2S1), among which variants in the CaSR gene are the most prevalent. However, challenges in the current diagnosis of FHH persist, owing to the overlap in clinical features with primary hyperparathyroidism (PHPT). Case presentation: The three reported patients demonstrated similar clinical presentations such as hypercalcemia and relative hypocalciuria. In two of them, the parathyroid hormone (PTH) level was elevated, while in one, it was normal. Initially, all of them received conventional hypocalcemic treatment. After comprehensive medical history collection and auxiliary examination were conducted to exclude other causes of hypercalcemia, whole exome sequencing (WES) and sanger sequencing were carried out. The results showed that the three patients carried different variants sites in the CaSR gene, namely, c.887G>A, c.2027 > G, c.1608 + 3A>T and c.332C>T. In addition, c.887G>A was also found in the son and grandson of patient 1. The analysis of the conservation of homologous species and the prediction of protein structure for all variant sites demonstrated that due to the heterozygous variants in CaSR, relatively conserved amino acids were altered, affecting the interaction forces between adjacent amino acids, resulting in changes in the protein structure, which might affect the function of the protein. Conclusion: In conclusion, we report three cases of FHH1 with different heterozygous variant sites in the CaSR gene. This study has expanded the spectrum of variants. It is of great significance for the genetic screening, diagnosis, counseling, and research of hypercalcemia-related genes and become a key resource for enhancing clinicians' understanding of FHH1.
Indexed as
Identifiers
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.