Elamin and de Buyl Journal of Medical Case Reports 2010, 4:349 http://www.jmedicalcasereports.com/content/4/1/349 Authors’ contributions WFE analyzed the data and prepared the manuscript. OdB managed the patients, made the diagnosis, and reviewed the manuscript. All authors read and approved the final manuscript. Competing interests The authors declare that they have no competing interests. Received: 23 October 2009 Accepted: 29 October 2010 Published: 29 October 2010 References 1. Gunn IR, Gaffney D: Clinical and laboratory features of calcium-sensing receptor disorders: a systematic review. Ann Clin Biochem 2004, 41:441-458. 2. Lyons TJ, Crookes PF, Postlethwaite W, Sheridan B, Brown RC, Atkinson AB: Familial hypocalciuric hypercalcaemia as a differential diagnosis of hyperparathyroidism: studies in a large kindred and a review of surgical experience in the condition. Br J Surg 1986, 225:188-192. 3. Pollak MR, Brown EM, Chou YH, Hebert SC, Marx SJ, Steinmann B, Levi T, Seidman CE, Seidman JG: Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell 1993, 75:1297-1303. 4. Brown EM, Pollak MR, Seidman CE, Seidman JG, Chou Y-HW, Riccardi D, Hebert SC: Calcium-ion-sensing cell-surface receptors. N Engl J Med 1995, 333:234-240. 5. Egbuna OI, Brown EM: Hypercalcaemic and hypocalcaemic conditions due to calcium sensing receptor mutations. Best Pract Res Clin Rheumatol 2008, 22:129. 6. Brown EM, Rosen CJ, Mulder JE, eds: Disorders of the calcium-sensing receptor: familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia. UpToDate 2009, version 17:3. 7. Calcium-Sensing Receptor Database. [http://www.casrdb.mcgill.ca]. 8. Holick MF: Vitamin D deficiency. N Engl J Med 2007, 357:266-281. 9. Rosen CJ: Postmenopausal osteoporosis. N Engl J Med 2005, 353:595-603. 10. Abboud H, Henrich WL: Stage IV chronic kidney disease. N Engl J Med 2010, 362:56-65. 11. El-Hajj Fuleihan G, Silverberg SJ, Rosen CJ, Mulder JE, (eds): Diagnosis and differential diagnosis of primary hyperparathyroidism. Up to date 2010 [http://www.uptodate.com], version. 18.1. 12. Zajickova K, Vrbikova J, Canaff L, Pawelek PD, Goltzman D, Hendy GN: Identification and functional characterization of a novel mutation in the calcium-sensing receptor gene in familial hypocalciuric hypercalcaemia: modulation of clinical severity by vitamin D status. J Clin Endocrinol Metab 2007, 92:2616-2623. 13. Huang Y, Zhou Y, Castiblanco A, Yang W, Brown EM, Yang JJ: Multiple Ca2+ binding sites in the extracellular domain of Ca2+-sensing receptor corresponding to cooperative Ca2+ response. Biochemistry 2009, 48:388-398. 14. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR: A method and server for predicting damaging missense mutations. Nat Methods 2010, 7:248-249 [http:// genetics.bwh.harvard.edu/pph2/]. 15. Cole DEC, Yun FHJ, Wong BYL, Shuen AY, Booth RA, Scillitani A, Pidasheva S, Zhou X, Canaff L, Hendy GN: Calcium-sensing receptor mutations and denaturing high performance liquid chromatography. J Mol Endocrinol 2009, 42:331-339. doi:10.1186/1752-1947-4-349 Cite this article as: Elamin and de Buyl: A novel mutation in the calcium-sensing receptor gene in an Irish pedigree showing familial hypocalciuric hypercalcemia: a case report. Journal of Medical Case Reports 2010 4:349. Page 5 of 5 Submit your next manuscript to BioMed Central and take full advantage of: • Convenient online submission • Thorough peer review • No space constraints or color ﬁgure charges • Immediate publication on acceptance • Inclusion in PubMed, CAS, Scopus and Google Scholar • Research which is freely available for redistribution Submit your manuscript at www.biomedcentral.com/submit