Recurrent Acute Pancreatitis Caused by Association of a Novel Mutation of the Calcium-Sensing Receptor Gene and a Heterozygous Mutation of the SPINK1 Gene

Pancreas ◽  
2010 ◽  
Vol 39 (3) ◽  
pp. 420-421 ◽  
Author(s):  
Clotilde Baudry ◽  
Vinciane Rebours ◽  
Pascal Houillier ◽  
Pascal Hammel ◽  
Philippe Ruszniewski ◽  
...  
Keyword(s):  
Acute Pancreatitis ◽  
Novel Mutation ◽  
Receptor Gene ◽  
Heterozygous Mutation ◽  
Calcium Sensing Receptor ◽  
Recurrent Acute Pancreatitis ◽  
Calcium Sensing ◽  
Calcium Sensing Receptor Gene

scholarly journals A novel mutation of the calcium sensing receptor gene is associated with chronic pancreatitis in a family with heterozygous SPINK1 mutations

2003 ◽  
Vol 3 (1) ◽  
Author(s):  
Peter Felderbauer ◽  
Peter Hoffmann ◽  
Henrik Einwächter ◽  
Kerem Bulut ◽  
Nikolaus Ansorge ◽  
...  
Keyword(s):  
Chronic Pancreatitis ◽  
Novel Mutation ◽  
Receptor Gene ◽  
Calcium Sensing Receptor ◽  
Calcium Sensing ◽  
Calcium Sensing Receptor Gene

scholarly journals A novel mutation of the calcium-sensing receptor gene in a Greek family from Nisyros

HORMONES ◽  
2015 ◽  
pp. 321-325
Author(s):  
Evaggelia Zapanti ◽  
Aikaterini Polonifi ◽  
Michalis Kokkinos ◽  
George Boutzios ◽  
Georgia Kassi ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Receptor Gene ◽  
Calcium Sensing Receptor ◽  
Calcium Sensing ◽  
Calcium Sensing Receptor Gene

scholarly journals A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria

2014 ◽  
Vol 14 (1) ◽  
Author(s):  
Eugenio Mastromatteo ◽  
Olga Lamacchia ◽  
Michela Rosaria Campo ◽  
Antonella Conserva ◽  
Filomena Baorda ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Receptor Gene ◽  
Calcium Sensing Receptor ◽  
Calcium Sensing ◽  
Calcium Sensing Receptor Gene

scholarly journals SAT-351 A Novel Mutation in the Calcium-Sensing Receptor Gene Presenting in a Kindred as Autosomal Dominant Familial Hypocalciuric Hypercalcemia

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Jordan Bushman ◽  
Ajaz Banka
Keyword(s):  
Genetic Analysis ◽  
Novel Mutation ◽  
Receptor Gene ◽  
Family Members ◽  
Heterozygous Mutation ◽  
Familial Hypocalciuric Hypercalcemia ◽  
Loss Of Function ◽  
Calcium Sensing Receptor ◽  
Casr Gene ◽  
Calcium Sensing

Abstract Rationale: Familial hypocalciuric hypercalcemia (FHH) is a benign cause of hypercalcemia. The majority of cases result from an inactivating mutation in the calcium-sensing receptor (CaSR). While affected patients are usually asymptomatic and require no treatment, this condition may go unrecognized and inappropriate parathyroidectomy for presumed primary hyperparathyroidism could be performed. Over 130 mutations in the CaSR gene have been reported and novel variants continue to emerge. Methods: The initial patient was a 49 year-old female who presented with mild hypercalcemia, elevated PTH and undetectable urine calcium. She reported several of her family members had elevated calcium levels. Given high clinical suspicion for FHH genetic analysis was performed. Results: Sequencing of the CaSR gene revealed a point mutation at c.1744T>A which resulted in p.Cys582Ser in exon 7. This cystine residue is highly conserved and predictive algorithms suggest this variant is likely disruptive leading to heterozygous loss of function in the CaSR. The patient’s 26 year-old daughter was tested and found to have the same mutation. Conclusion: We report the identification of a novel heterozygous mutation in the CaSR gene manifesting as FHH in a family of Iraqi decent. Additional family members are currently undergoing genetic analysis which will be included at the time of presentation.

scholarly journals A novel mutation of the calcium-sensing receptor gene in a German subject with familial hypocalciuric hypercalcemia and primary hyperparathyroidism

HORMONES ◽  
2017 ◽  
Vol 15 (4) ◽  
pp. 557-559 ◽  
Author(s):  
Marios Papadakis ◽  
Natalie Meurer ◽  
Theodora Margariti ◽  
Anke Meyer ◽  
Norbert Weyerbrock ◽  
...  
Keyword(s):  
Primary Hyperparathyroidism ◽  
Novel Mutation ◽  
Receptor Gene ◽  
Familial Hypocalciuric Hypercalcemia ◽  
Calcium Sensing Receptor ◽  
Calcium Sensing ◽  
Calcium Sensing Receptor Gene
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