ArticleThe Journal of clinical endocrinology and metabolism2009
A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia.
Article in The Journal of clinical endocrinology and metabolism, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed.
- A novel homozygous inactivating mutation of the calcium-sensing receptor causing familial hypocalciuric hypercalcemia complicated with primary hyperparathyroidism due to parathyroid adenoma: A case report.The Journal of international medical research · 2026Article
- Severe Hyperparathyroidism in a 3-year-old girl Due to Homozygous Inactivating Variant of theJCEM case reports · 2025Article
- Generation of CRISPR/Cas9 modified human iPSC line with correction of heterozygous mutation in exon 6 of the CaSR gene.Human cell · 2024Article
- Genotype-Phenotype Correlations in Asian Indian Children and Adolescents with Primary Hyperparathyroidism.Calcified tissue international · 2022Article
- A novel case of neonatal severe hyperparathyroidism successfully treated with a type II calcimimetic drug.Bone reports · 2021Article
- International Union of Basic and Clinical Pharmacology. CVIII. Calcium-Sensing Receptor Nomenclature, Pharmacology, and Function.Pharmacological reviews · 2020Review
- Neonatal Severe Hyperparathyroidism: Novel Insights From Calcium, PTH, and the CASR Gene.The Journal of clinical endocrinology and metabolism · 2020Article
- Neonatal severe hyperparathyroidism due to a homozygous mutation of calcium-sensing receptor; a challenging caseThe Ceylon medical journal · 2019Article
- Evolution of Our Understanding of the Hyperparathyroid Syndromes: A Historical Perspective.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2019Review
- TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism.American journal of human genetics · 2018Article
- Familial hypocalciuric hypercalcemia type 1 due to a novel homozygous mutation of the calcium-sensing receptor gene.Journal of endocrinological investigation · 2017Article
- Diseases associated with calcium-sensing receptor.Orphanet journal of rare diseases · 2017Review
- Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism.The Journal of clinical endocrinology and metabolism · 2016Article
- Hyperplasia in glands with hormone excess.Endocrine-related cancer · 2016Review
- Hereditary hyperparathyroidism--a consensus report of the European Society of Endocrine Surgeons (ESES).Langenbeck's archives of surgery · 2015Review
- Familial hypocalciuric hypercalcemia with a de novo heterozygous mutation of calcium-sensing receptor.Endocrinology, diabetes & metabolism case reports · 2015Article
- Cinacalcet monotherapy in neonatal severe hyperparathyroidism: a case study and review.The Journal of clinical endocrinology and metabolism · 2014Review
- Primary hyperparathyroidism in children and adolescents.Journal of the Chinese Medical Association : JCMA · 2012Review
- Hypercalcemia in children and adolescents.Current opinion in pediatrics · 2010Review
- Clinical and molecular genetics of parathyroid neoplasms.Best practice & research. Clinical endocrinology & metabolism · 2010Review
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Authors and funding
8 authors.
Funding
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Abstract
contextMutations that inactivate one allele of the gene encoding the calcium sensing receptor (CaSR) cause autosomal dominant familial hypocalciuric hypercalcemia (FHH), whereas homozygous mutations cause neonatal severe hyperparathyroidism.
objectiveWe describe the identification and biochemical characterization of a novel CASR gene mutation that caused apparent autosomal recessive FHH in an extended consanguineous kindred.
designThe study design involved direct sequence analysis of the CaSR gene, clinical and biochemical analyses of patients, and in vitro immunobiochemical studies of the mutant CaSR.
resultsA novel inactivating mutation (Q459R) was identified in exon 4 of both alleles of the CASR in the proband, who presented with asymptomatic hypercalcemia and hypocalciuria at age 2 yr. The proband's parents were heterozygous for the Q459R mutation consistent with autosomal recessive inheritance of FHH. Among 13 family members that were studied, eight subjects were heterozygous for the Q459R mutation and five had normal genotypes. All heterozygous subjects were asymptomatic and normocalcemic apart from one subject who was mildly hypercalcemic. The Q459R mutant CaSR was normally expressed at the cell membrane but retained only 30-50% of the calcium-dependent activity of the wild-type CaSR.
conclusionWe identified a novel loss-of-function Q459R mutation in the CASR gene that exhibits mildly reduced sensitivity to calcium and that is associated with apparent autosomal recessive transmission of FHH. This study demonstrates the importance of genetic testing in FHH to distinguish between de novo and inherited mutations of the CASR gene and assist in management decisions.
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