|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Novel missense mutation in the CASR gene in a Chinese family with familial hypocalciuric hypercalcemia.
|
15963484 |
2005 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
With a hypercalcemic family member, mutation detection rate in FHH rose to seven of eight (87%), whereas only one of nine sporadic cases was positive, and none of the three FIHP cases had detectable CASR mutations.
|
20164288 |
2010 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These observations support that inactivating mutations in the CASR gene in bone cells in FHH may protect against forearm bone loss.
|
21785908 |
2011 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
PATIENTS, DESIGN AND MEASUREMENTS: The CaR gene from FHH family members was assessed for mutations by direct DNA sequencing and mutations were confirmed by restriction enzyme analysis.
|
16649980 |
2006 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial hypocalciuric hypercalcemia: phenotypic variation and mutation spectrum in a Danish population.
|
17698911 |
2007 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
By contrast, more common heterozygous CASR mutations are generally associated with a benign variant of PHPT termed familial hypocalciuric hypercalcemia.
|
22989537 |
2012 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Phenocopies of FHH or ADH are due to circulating CASR inactivating or activating autoantibodies, respectively.
|
20374733 |
2009 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
FHH is caused by inactivating mutations in the calcium sensing receptor (CASR) gene leading to a general calcium-hyposensitivity, compensatory hypercalcaemia and hypocalciuria.
|
21986511 |
2011 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
However, individuals who are homozygous for CaSR mutations have neonatal severe hyperparathyroidism (NSHPT), which unlike the relatively benign and asymptomatic FHH can be fatal without parathyroidectomy.
|
15241688 |
2004 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A missense mutation in the Ca(2+)-sensing receptor (CaSR) gene was previously identified in a Japanese family with familial hypocalciuric hypercalcemia.
|
8934212 |
1996 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Identification and functional characterization of a novel mutation in the calcium-sensing receptor gene in familial hypocalciuric hypercalcemia: modulation of clinical severity by vitamin D status.
|
17473068 |
2007 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we report two novel CASR mutations affecting the same amino acid (p.N802); one causes ADH and the other atypical FHH.
|
23169696 |
2013 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we analyzed the CaSR gene in a Korean family with familial hypocalciuric hypercalcemia (FHH).
|
26386835 |
2016 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In 2003 we identified a family with familial hypocalciuric hypercalcemia (FHH) (heterozygous CASR gene mutation L173P) and a mutation in the pancreatic secretory trypsin inhibitor gene (SPINK1) (N34S).
|
16497624 |
2006 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Patients with familial hyperparathyroidism and low urinary calcium excretion may have familial hypocalciuric hypercalcemia (FHH) with mutations in one of three genes: the calcium-sensing receptor (CaSR) defining FHH-type 1, the adaptor-related protein complex 2 (AP2S1) related to FHH-type 3 or the G-protein subunit alpha11 (GNA11) associated with FHH-type 2.
|
28176280 |
2017 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These results confirm that FHH can be caused by non-conservative missense mutations in the CASR gene leading to abnormal calcium homeostasis.
|
10885494 |
2000 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Familial hypocalciuric hypercalcemia (FHH or FBHH) and neonatal severe primary hyperparathyroidism (NSHPT) reflect heterozygous or homozygous mutations, respectively, in the calcium-sensing receptor.
|
12412776 |
2002 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have shown that the c.772_773delGTinsA mutation causes a significant alteration of CaSR function leading to features of FHH in an affected young infant since the first months of life.
|
27087013 |
2016 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Given her family history, genetic testing was pursued and discovered a novel pathogenic mutation of the CaSR gene confirming the diagnosis of FHH type 1.
|
31641801 |
2020 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations in the calcium-sensing receptor (CaR) gene have previously been identified in patients with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT).
|
7717399 |
1995 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Insulinoma cell calcium-sensing receptor influences insulin secretion in a case with concurrent familial hypocalciuric hypercalcemia and malignant metastatic insulinoma.
|
18430790 |
2008 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Gain-of-function CaSR mutations have been shown to result in autosomal dominant hypocalcaemia with hypercalciuria (ADHH) and Bartter's syndrome type V. CaSR auto-antibodies have been found in FHH patients who did not have loss-of-function CaSR mutations, and in patients with an acquired form (i.e. autoimmune) of hypoparathyroidism.
|
15200151 |
2004 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Direct sequence analysis of the exons of the CASR gene identified heterozygous mutations in six of the kindreds with FHH and in one of those with ADH.
|
11889203 |
2002 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The novel heterozygous mutation (D190G) identified in the present study showed that the reduction of activity of CASR to extracellular Ca(2+) caused FHH in patients and our study demonstrated the importance of Asp-190 participated in response to Ca(2+) in CASR.
|
20697181 |
2010 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Defects in messenger RNA splicing were investigated by illegitimate transcription of the CASR gene in lymphoblastoid cells from an FHH affected individual, as well as by transfection of a CASR minigene harboring this mutation into HEK293 cells.
|
11668634 |
2001 |