Codon Arg15 mutations of the AP2S1 gene: Common occurrence in familial hypocalciuric hypercalcemia cases negative for calcium-sensing receptor (CASR) mutations

Journal of Clinical Endocrinology and Metabolism

Volumn 99, Issue 7, 2014, Pages

  Hendy, Geoffrey N ^a   Canaff, Lucie ^a   Newfield, Ron S ^b   Tripto Shkolnik, Liana ^c,d   Wong, Betty Y L ^e   Lee, Bonnie S P ^e   Cole, David E C ^e  

^a ROYAL VICTORIA HOSPITAL   (Canada)

^b UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^c RADY CHILDREN'S HOSPITAL   (United States)

^d HILLEL YAFFE MEDICAL CENTER   (Israel)

^e UNIVERSITY OF TORONTO   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CALCITRIOL; CALCIUM; CALCIUM SENSING RECEPTOR; GENOMIC DNA; PARATHYROID HORMONE;

ADOLESCENT; ADULT; AP2S1 GENE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CALCIUM BLOOD LEVEL; CALCIUM EXCRETION; CALCIUM URINE LEVEL; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; DUAL ENERGY X RAY ABSORPTIOMETRY; EXON; FAMILIAL HYPOCALCIURIC HYPERCALCEMIA; FEMALE; GENE; GENE FREQUENCY; HUMAN; HYPERCALCEMIA; HYPERMAGNESEMIA; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PARATHYROID HORMONE BLOOD LEVEL; PHENOTYPIC VARIATION; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; SCHOOL CHILD; SCORING SYSTEM; SEQUENCE ANALYSIS; VITAMIN BLOOD LEVEL; YOUNG ADULT; Z SCORE;

ADAPTOR PROTEIN COMPLEX 2; ADAPTOR PROTEIN COMPLEX SIGMA SUBUNITS; ADOLESCENT; ADULT; ARGININE; BASE SEQUENCE; CHILD; CODON; COHORT STUDIES; FEMALE; GENE FREQUENCY; HUMANS; HYPERCALCEMIA; MALE; MUTATION, MISSENSE; PEDIGREE; RECEPTORS, CALCIUM-SENSING; YOUNG ADULT;

EID: 84904052547     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2014-1120     Document Type: Article

References (23)

1. Brown EM. Clinical lessons from the calcium-sensing receptor. Nat Clin Pract Endocrinol Metab. 2007;3:122-133. (Pubitemid 46146965)
2. Kifor O, Moore FD Jr, Wang P, et al. Reduced immunostaining for the extracellular Ca2+-sensing receptor in primary and uremic secondary hyperparathyroidism. J Clin Endocrinol Metab. 1996;81:1598-1606.
3. Cetani F, Picone A, Cerrai P, et al. Parathyroid expression of calcium-sensing receptor protein and in vivo parathyroid hormone-Ca(2+) set-point in patients with primary hyperparathyroidism. J Clin Endocrinol Metab. 2000;85:4789-4794. (Pubitemid 32157667)
4. Guarnieri V, Canaff L, Yun FHJ, et al. Calcium-sensing receptor (CASR) mutations in hypercalcemic states: Studies from a single endocrine clinic over three years. J Clin Endocrinol Metab. 2010;95:1819-1829.
5. Christensen SE, Nissen PH, Vestergaard P, Mosekilde L. Familial hypocalciuric hypercalcaemia: a review. Curr Opin Endocrinol Diabetes Obes. 2011;18:359-370.
6. Hendy GN, Guarnieri, V, Canaff L. Calcium-sensing receptor and associated diseases. Prog Mol Biol Transl Sci. 2009;89:31-95.
7. Hannan FM, Nesbit MA, Zhang C, et al. Identification of 70 calcium-sensing receptor mutations in hyper- and hypocalcemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites. Hum Mol Genet. 2012;21:2768-2778.
8. 11 in hypercalcemia and hypocalcemia. N Engl J Med. 2013;368:2476-2486.
9. McMurty CT, Schranck FW, Walkenhorst DA, et al. Significant developmental elevation in serum parathyroid hormone levels in a large kindred with familial benign (hypocalciuric) hypercalcemia. Am J Med. 1992;93:247-256.
10. Ok), to chromosome 19q13. Am J Hum Genet. 1999;64:189-195.
11. Nesbit MA, Hannan FM, Graham U, et al. Identification of a second kindred with familial hypocalciuric hypercalcemia type 3 (FHH3) narrows localization to a <3.5 megabase pair region on chromosome 19q13.3. J Clin Endocrinol Metab. 2010;95:1947-1954.
12. Nesbit MA, Hannan FM, Howles SA, et al. Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. Nat Genet. 2013;45:93-97.
13. Hendy GN, Cole DEC. Ruling in a suspect: the role of AP2S1 mutations in familial hypocalciuric hypercalcemia type 3. J Clin Endocrinol Metab. 2013;98:4666-4669.
14. Wagener BM, Marjon NA, Revankar CM, Prossnitz ER. Adaptor protein-2 interaction with arrestin regulates GPCR recycling and apoptosis. Traffic. 2009;10:1286-1300.
15. Cole DEC, Yun FHJ, Wong BYL, et al. Calcium-sensing receptor mutations and denaturing high performance liquid chromatography. J Mol Endocrinol. 2009;42:331-339.
16. Crisan VM, Korytkowski M. Persistent hypercalcemia after parathyroidectomy for primary hyperparathyroidism. Presented at: 82nd Annual Meeting of The Endocrine Society; June 21-24 2000; Toronto, Canada. p. 377 (Abstract).
17. Fujisawa Y, Yamaguchi R, Satake E, et al. Identification of AP2S1 mutation and effects of low calcium formula in an infant with hypercalcemia and hypercalciuria. J Clin Endocrinol Metab. 2013;98:E2022-E2027.
18. Jackson CE, Boonstra C. Hereditary hypercalcemia and parathyroid hyperplasia without definite hyperparathyroidism. J Lab Clin Med. 1966;68:883 (Abstract 862).
19. Foley TP Jr, Harrison HC, Arnaud CD, Harrison HE. Familial benign hypercalcemia. J Pediatr. 1972;81:1060-1067.
20. Law WM Jr, Heath H III. Familial benign hypercalcemia (hypocalciuric hypercalcemia): clinical and pathogenetic study of 21 families. Ann Intern Med. 1985;102:511-519.
21. Marx SJ, Attie MF, Levine MA Spiegel AM, Downs RWJ, Lasker RD. The hypocalciuric or benign variant of familial hypercalcemia: clinical and biochemical features of fifteen families. Medicine (Baltimore). 1981;60:397-412. (Pubitemid 12207234)
22. Pasieka JL, Anderson MA, Hanley DA. Familial benign hypercalcemia: hypercalciuria and hypocalciuria in affected members of a small kindred. Clin Endocrinol (Oxf). 1990;33:429-433. (Pubitemid 20290682)
23. D'Souza-Li L, Yang B, Canaff L, et al. Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia. J Clin Endocrinol Metab. 2002;87:1309-1318. (Pubitemid 36121103)