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Article

New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT).

Arquivos brasileiros de endocrinologia e metabologia - 1 Feb 2011

Rodrigues Luiza Souza, Cáu Ana Carolina Arias, Bussmann Luciane Zgoda, Bastida Gabriela, Brunetto Oscar H, Corrêa Pedro Henrique Silveira, Martin Regina Matsunaga

Abstract excerpt

A loss of calcium-sensing receptor (CASR) function due to inactivating mutations can cause familial hypocalciuric hypercalcemia (FHH) or neonatal severe hyperparathyroidism (NSHPT). NSHPT represents the most severe expression of FHH and courses as a life-threatening condition. The aim of this study was to identify and characterize a CASR mutation in a female infant brought to the health service due to...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Receptors, Calcium-Sensing

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Source

Identifiers

PMID: 21468522
DOI: 10.1590/s0004-27302011000100009

Genes

CASR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT).PMID 21468522Read ↗

A novel mutation of the calcium-sensing receptor gene in a Greek family from Nisyros.Semantic proximity Read ↗

CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.Semantic proximity Read ↗

Identification and Functional Characterization of a Calcium-Sensing Receptor Mutation in an Infant with Familial Hypocalciuric Hypercalcemia.Semantic proximity Read ↗

Neonatal severe hyperparathyroidism caused by homozygous mutation in CASR: A rare cause of life-threatening hypercalcemia.Semantic proximity Read ↗

Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.Semantic proximity Read ↗

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[Familial Hypocalciuric Hypercalcemia Type 1 Likely Secondary to a New Inactivating Mutation of CASR].Semantic proximity Read ↗

Calcium-sensing receptor (CaSR) mutations and disorders of calcium, electrolyte and water metabolism.Semantic proximity Read ↗

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Subtotal Parathyroidectomy Successfully Controls Calcium Levels of Patients with Neonatal Severe Hyperparathyroidism Carrying a Novel CASR Mutation.Semantic proximity Read ↗

[Familial hypocalciuric hypercalcemia: a new mutation].Semantic proximity Read ↗

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