Analysis of AP2S1, a calcium-sensing receptor regulator, in familial and sporadic isolated hypoparathyroidism

Journal of Clinical Endocrinology and Metabolism

Volumn 99, Issue 3, 2014, Pages

  Lambert, Anne Sophie ^a,d   Grybek, Virginie ^a   Francou, Bruno ^a,b,c   Esterle, Laure ^b   Bertrand, Guylène ^e   Bouligand, Jérôme ^a,b,c   Guiochon Mantel, Anne ^a,b,c   Hieronimus, Sylvie ^f   Voitel, Dorit ^g   Soskin, Sylvie ^h   Magdelaine, Corinne ^d   Lienhardt, Anne ^d   Silve, Caroline ^a,b,e   Linglart, Agnès ^a,b,c  

^a INSERM   (France)

^b BICÊTRE HOSPITAL   (France)

^c UNIVERSITÉ PARIS SACLAY   (France)

^d LIMOGES UNIVERSITY HOSPITAL   (France)

^e BICHAT HOSPITAL   (France)

^f UNIVERSITY HOSPITAL OF NICE   (France)

^g HÔPITAL LOUIS MOURIER   (France)

^h UNIVERSITY HOSPITAL OF STRASBOURG   (France)

Author keywords

[No Author keywords available]

Indexed keywords

AP2S1 PROTEIN; CALCIUM SENSING RECEPTOR; UNCLASSIFIED DRUG;

AP2S1 GENE; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; COPY NUMBER VARIATION; FAMILIAL DISEASE; GENE; GENETIC ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADAPTOR PROTEIN COMPLEX 2; ADAPTOR PROTEIN COMPLEX SIGMA SUBUNITS; ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; HUMANS; HYPOPARATHYROIDISM; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; PEDIGREE; RECEPTORS, CALCIUM-SENSING; YOUNG ADULT;

EID: 84895811917     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2013-3136     Document Type: Article

References (18)

1. Bilezikian JP, Khan A, Potts JT Jr, et al. Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research. J Bone Miner Res. 2011;26:2317-2337.
2. Alimohammadi M, Bjorklund P, Hallgren A, et al. Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. N Engl J Med. 2008;358:1018-1028. (Pubitemid 351347101)
3. Li Y, Song YH, Rais N, et al. Autoantibodies to the extracellular domain of the calcium sensing receptor in patients with acquired hypoparathyroidism. J Clin Invest. 1996;97:910-914. (Pubitemid 26070569)
4. Emanuel BS. Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements. Dev Disabil Res Rev. 2008;14:11-18. (Pubitemid 351716518)
5. Merscher S, Funke B, Epstein J, et al. TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell. 2001;104:619-629. (Pubitemid 32201955)
6. Van Esch H, Groenen P, Nesbit M, et al. GATA3 haplo-insufficiency causes human HDR syndrome. Nature. 2000;406:419-422. (Pubitemid 30625562)
7. Parvari R, Hershkovitz E, Grossman N, et al. Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and auto- somal recessive Kenny-Caffey syndrome. Nat Genet. 2002;32:448-452. (Pubitemid 35266124)
8. Ding C, Buckingham B, Levine MA. Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB. J Clin Invest. 2001;108:1215-1220. (Pubitemid 32995380)
9. Mannstadt M, Bertrand G, Muresan M, et al. Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism. J Clin Endocrinol Metab. 2008;93:3568-3576.
10. Arnold A, Horst SA, Gardella TJ, Baba H, Levine MA, Kronenberg HM. Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism. J Clin Invest. 1990;86:1084-1087. (Pubitemid 20370411)
11. 2+-sensing receptor gene mutation. Nat Genet. 1994;8:303-307.
12. Nesbit MA, Hannan FM, Howles SA, et al. Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia. N Engl J Med. 2013;368:2476-2486.
13. Mannstadt M, Harris M, Bravenboer B, et al. Germline mutations affecting Gα11 in hypoparathyroidism. N Engl J Med. 2013;368: 2532-2534.
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;27:359-371.
15. Picard N, Van Abel M, Campone C, et al. Tissue kallikrein-deficient mice display a defect in renal tubular calcium absorption. J Am Soc Nephrol. 2005;16:3602-3610. (Pubitemid 46211281)
16. 2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell. 1993;75: 1297-1303.
17. Nesbit MA, Hannan FM, Howles SA, et al. Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. Nat Genet. 2013; 45:93-97.
18. Yamamoto M, Akatsu T, Nagase T, Ogata E. Comparison of hypocalcemic hypercalciuria between patients with idiopathic hypoparathyroidism and those with gain-of-function mutations in the calcium-sensing receptor: is it possible to differentiate the two disorders? J Clin Endocrinol Metab. 2000;85:4583-4591. (Pubitemid 32157637)