Activating calcium-sensing receptor gene variants in children: A case study of infant hypocalcaemia and literature review

Acta Paediatrica, International Journal of Paediatrics

Volumn 103, Issue 11, 2014, Pages 1117-1125

  Thim, Signe B ^a   Birkebæk, Niels H ^a   Nissen, Peter H ^a   Høst, Christian ^a  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

Author keywords

Calcium sensing receptor; Hypocalcaemia; Neonatal; Paediatric; Seizures

Indexed keywords

ALFACALCIDOL; CALCIUM; CALCIUM SENSING RECEPTOR; GENOMIC DNA; MAGNESIUM; PHENOBARBITAL; VALPROIC ACID;

AUTOSOMAL DOMINANT HYPOCALCEMIA; AUTOSOMAL DOMINANT INHERITANCE; CALCIUM BLOOD LEVEL; CASE REPORT; ELECTROENCEPHALOGRAPHY; FAHR DISEASE; FEMALE; GENE ACTIVATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HOSPITAL ADMISSION; HUMAN; HYPOCALCEMIA; INFANT; KIDNEY CALCIFICATION; LABORATORY TEST; NEUROLOGIC DISEASE; PRIORITY JOURNAL; REVIEW; TONIC CLONIC SEIZURE; GENETICS; HYPERCALCIURIA; HYPOPARATHYROIDISM; PHYSIOLOGY;

CALCIUM; FEMALE; GENETIC VARIATION; HUMANS; HYPERCALCIURIA; HYPOCALCEMIA; HYPOPARATHYROIDISM; INFANT; RECEPTORS, CALCIUM-SENSING;

EID: 84959072741     PISSN: 08035253     EISSN: 16512227     Source Type: Journal    
DOI: 10.1111/apa.12743     Document Type: Review

References (30)

1. Ward BK, Magno AL, Walsh JP, Ratajczak T,. The role of the calcium-sensing receptor in human disease. Clin Biochem 2012; 45: 943-53.
2. Pollak MR, Brown EM, Estep HL, McLaine PN, Kifor O, Park J, et al., Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation. Nat Genet 1994; 8: 303-7.
3. Thakker RV,. Diseases associated with the extracellular calcium-sensing receptor. Cell Calcium 2004; 35: 275-82.
4. Pearce SH, Williamson C, Kifor O, Bai M, Coulthard MG, Davies M, et al., A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. N Engl J Med 1996; 335: 1115-22.
5. Brown EM, Gamba G, Riccardi D, Lombardi M, Butters R, Kifor O, et al., Cloning and characterization of an extracellular Ca(2+)-sensing receptor from bovine parathyroid. Nature 1993; 366: 575-80.
6. Guarnieri V, Valentina DA, Baorda F, Pazienza V, Benegiamo G, Stanziale P, et al., CASR gene activating mutations in two families with autosomal dominant hypocalcemia. Mol Genet Metab 2012; 107: 548-52.
7. Raue F, Pichl J, Dorr HG, Schnabel D, Heidemann P, Hammersen G, et al., Activating mutations in the calcium-sensing receptor: genetic and clinical spectrum in 25 patients with autosomal dominant hypocalcaemia-a German survey. Clin Endocrinol (Oxf) 2011; 75: 760-5.
8. Letz S, Rus R, Haag C, Dorr HG, Schnabel D, Mohlig M, et al., Novel activating mutations of the calcium-sensing receptor: the calcilytic NPS-2143 mitigates excessive signal transduction of mutant receptors. J Clin Endocrinol Metab 2010; 95: E229-33.
9. Sorheim JI, Husebye ES, Nedrebo BG, Svarstad E, Lind J, Boman H, et al., Phenotypic variation in a large family with autosomal dominant hypocalcaemia. Horm Res Paediatr 2010; 74: 399-405.
10. Mittelman SD, Hendy GN, Fefferman RA, Canaff L, Mosesova I, Cole DE, et al., A hypocalcemic child with a novel activating mutation of the calcium-sensing receptor gene: successful treatment with recombinant human parathyroid hormone. J Clin Endocrinol Metab 2006; 91: 2474-9.
11. Schouten BJ, Raizis AM, Soule SG, Cole DR, Frengley PA, George PM, et al., Four cases of autosomal dominant hypocalcaemia with hypercalciuria including two with novel mutations in the calcium-sensing receptor gene. Ann Clin Biochem 2011; 48: 286-90.
12. Pollak MR, Brown EM, Chou YH, Hebert SC, Marx SJ, Steinmann B, et al., Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell 1993; 75: 1297-303.
13. Egbuna OI, Brown EM,. Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations. Best Pract Res Clin Rheumatol 2008; 22: 129-48.
14. Hannan FM, Thakker RV,. Calcium-sensing receptor (CaSR) mutations and disorders of calcium, electrolyte and water metabolism. Best Pract Res Clin Endocrinol Metab 2013; 27: 359-71.
15. Maret A, Ding C, Kornfield SL, Levine MA,. Analysis of the GCM2 gene in isolated hypoparathyroidism: a molecular and biochemical study. J Clin Endocrinol Metab 2008; 93: 1426-32.
16. Canaff L, Zhou X, Mosesova I, Cole DE, Hendy GN,. Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism. Hum Mutat 2009; 30: 85-92.
17. Gunn IR, Gaffney D,. Clinical and laboratory features of calcium-sensing receptor disorders: a systematic review. Ann Clin Biochem 2004; 41: 441-58.
18. Lienhardt A, Bai M, Lagarde JP, Rigaud M, Zhang Z, Jiang Y, et al., Activating mutations of the calcium-sensing receptor: management of hypocalcemia. J Clin Endocrinol Metab 2001; 86: 5313-23.
19. Nissen PH, Christensen SE, Heickendorff L, Brixen K, Mosekilde L,. 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. J Clin Endocrinol Metab 2007; 92: 4373-9.
20. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, et al., A method and server for predicting damaging missense mutations. Nat Methods 2010; 7: 248-9.
21. den Dunnen JT, Antonarakis SE,. Nomenclature for the description of human sequence variations. Hum Genet 2001; 109: 121-4.
22. Hannan FM, Nesbit MA, Zhang C, Cranston T, Curley AJ, Harding B, et al., Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites. Hum Mol Genet 2012; 21: 2768-78.
23. Burren CP, Curley A, Christie P, Rodda CP, Thakker RV,. A family with autosomal dominant hypocalcaemia with hypercalciuria (ADHH): mutational analysis, phenotypic variability and treatment challenges. J Pediatr Endocrinol Metab 2005; 18: 689-99.
24. Hirai H, Nakajima S, Miyauchi A, Nishimura K, Shimizu N, Shima M, et al., A novel activating mutation (C129S) in the calcium-sensing receptor gene in a Japanese family with autosomal dominant hypocalcemia. J Hum Genet 2001; 46: 41-4.
25. Suzuki M, Aso T, Sato T, Michimata M, Kazama I, Saiki H, et al., A case of gain-of-function mutation in calcium-sensing receptor: supplemental hydration is required for renal protection. Clin Nephrol 2005; 63: 481-6.
26. Watanabe S, Fukumoto S, Chang H, Takeuchi Y, Hasegawa Y, Okazaki R, et al., Association between activating mutations of calcium-sensing receptor and Bartter's syndrome. Lancet 2002; 360: 692-4.
27. Canaff L, Hendy GN,. Human calcium-sensing receptor gene. Vitamin D response elements in promoters P1 and P2 confer transcriptional responsiveness to 1,25-dihydroxyvitamin D. J Biol Chem 2002; 277: 30337-50.
28. Bilezikian JP, Khan A, Potts JT Jr, Brandi ML, Clarke BL, Shoback D, et al., Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research. J Bone Miner Res 2011; 26: 2317-37.
29. Shiohara M, Shiozawa R, Kurata K, Matsuura H, Arai F, Yasuda T, et al., Effect of parathyroid hormone administration in a patient with severe hypoparathyroidism caused by gain-of-function mutation of calcium-sensing receptor. Endocr J 2006; 53: 797-802.
30. Winer KK, Zhang B, Shrader JA, Peterson D, Smith M, Albert PS, et al., Synthetic human parathyroid hormone 1-34 replacement therapy: a randomized crossover trial comparing pump versus injections in the treatment of chronic hypoparathyroidism. J Clin Endocrinol Metab 2012; 97: 391-9.