Antiphospholipid antibodies syndrome associated with hyperhomocysteinemia related to MTHFR gene C677T and A1298C heterozygous mutations in a young man with idiopathic hypoparathyroidism (DiGeorge syndrome)

Journal of Clinical Endocrinology and Metabolism

Volumn 91, Issue 6, 2006, Pages 2021-2026

  Nucera, Carmelo ^a   Vaccaro, Mario ^a   Moleti, Mariacarla ^a   Priolo, Carmen ^b,c   Tortorella, Gaetano ^a   Angioni, Adriano ^d   Ientile, Riccardo ^a   Violi, Maria Antonia ^a   Loda, Massimo ^b   Trimarchi, Francesco ^a   Vermiglio, Francesco ^a,e  

^a UNIVERSITY OF MESSINA   (Italy)

^b HARVARD MEDICAL SCHOOL   (United States)

^c REGINA ELENA NATIONAL CANCER INSTITUTE   (Italy)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^e UNIVERSITY OF MESSINA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); ANTICONVULSIVE AGENT; CALCITRIOL; TOPIRAMATE;

ADULT; ANAMNESIS; ANTIPHOSPHOLIPID SYNDROME; CASE REPORT; CHROMOSOME 22Q; CLINICAL EXAMINATION; CLINICAL FEATURE; CONFERENCE PAPER; DIGEORGE SYNDROME; DISEASE ASSOCIATION; DISEASE SEVERITY; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE LOCUS; GENE MUTATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPERHOMOCYSTEINEMIA; HYPOCALCEMIA; HYPOPARATHYROIDISM; IDIOPATHIC DISEASE; LEARNING DISORDER; MALE; METABOLIC SYNDROME X; MICROARRAY ANALYSIS; OBESITY; PRIORITY JOURNAL; SEIZURE; SINGLE NUCLEOTIDE POLYMORPHISM; VASCULITIS; VITAMIN SUPPLEMENTATION;

EID: 33744965951     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2005-2782     Document Type: Article

References (29)

1. Finazzi G 2001 The epidemiology of the antiphospholipid syndrome: who is at risk? Curr Rheumatol Rep 3:271-276
2. Marai I, Zandman-Goddard G, Shoenfel Y 2004 The systemic nature of the antiphospholipid syndrome. Scand J Rheumatol 33:365-372
3. van der Put NM, Gabreels F, Stevens EM, Smeitink JA, Trijbels FJ, Eskes TK, van den Heuvel LP, Blom HJ 1998 A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural tube defects? Am J Hum Genet 62:1044-1051
4. Caccamo D, Condello S, Gorgone G, Crisafulli G, Belcastro V, Gennaro S, Striano P, Pisani F, Ientile 2004 Screening for C677T and A1298C MTHFR polymorphisms in patients with epilepsy and risk of hyperhomocysteinemia. Neuromol Med 6:117-126
5. Lee RM, Brown MA, Ward K, Nelson L, Branch DW, Silver RM 2004 Homocysteine levels in women with antiphospholipid syndrome and normal fertile controls. J Reprod Immunol 64:23-30
6. Choi JH, Shin YL, Kim GH, Seo EJ, Kim Y, Park IS, Yoo HW 2005 Endocrine manifestations of chromosome 22q11.2 microdeletion syndrome. Horm Res 63:294-299
7. Digilio MC, Marino B, Cappa M, Cambiaso P, Giannotti A, Dallapiccola B 2001 Auxological evaluation in patients with DiGeorge/velocardiofacial syndrome (deletion 22q11.2 syndrome). Genet Med 1:30-33
8. Jawad AF, McDonald-McGinn DM, Zackai E, Sullivan KE 2001 Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/ velocardiofacial syndrome. J Pediatr 139:715-723
9. Sullivan KE 2001 DiGeorge syndrome/chromosome 22q11.1 deletion syndrome. Curr Allergy Asthma Rep 1:438-444
10. Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown C, Boemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Patton M, Peterson J, Scambler PJ 1997 Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 34:798-804
11. Shaikh TH, Kurahashi H, Saitta SC, O'Hare AM, Hu P, Roe BA, Driscoll DA, McDonald-McGinn M, Zackai EH, Budarf ML, Emanuel BS 2000 Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis. Hum Mol Genet 9:489-501
12. Budarf ML, Konkle B, Michaud D, Ludlow LB, Michaud D, Mengrong L, Yamashiro DJ, McDonald-McGinn DM, Zackai E, Driscoll D 1995 Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo- cardio-facial chromosome region in 22q11. Hum Mol Genet 4:763-766
13. Lawrence S, McDonald-McGinn DM, Zackai E, Sullivan KE 2003 Thrombocytopenia in patients with chromosome 22q11.2 deletion syndrome. J Pediatr 143:277-278
14. Levy A, Michel G, Lemerrer M, Philip N 1997 Idiopathic thrombocytopenic purpura in two mothers of children with DiGeorge sequence. Am J Med Genet 69:356-359
15. Sullivan KE 2004 The clinical, immunological and molecular spectrum of chromosome 22q11.2 deletion syndrome and DiGeorge syndrome. Curr Opin Allergy Clin Immunol 4:505-512
16. Cuneo BF, Driscoll DA, Gidding SS, Langman CB 1997 Evolution of latent hypoparathyroidism in familial 22q11 deletion syndrome. Am J Med Genet 69:50-55
17. Weinzimer SA 2001 Endocrine aspects of the 22q11.2 deletion syndrome. Genet Med 3:19-22
18. Taylor SC, Morris G, Wilson D, Davies SJ, Gregory JW 2003 Hypoparathyroidism and 22q11 deletion syndrome. Arch Dis Child 88:520-522
19. Grundy SM 2004 Obesity, metabolic syndrome, and cardiovascular disease. J Clin Endocrinol Metab 6:2595-2600
20. The American College of Rheumatology 1990 Criteria for the classification of vasculitis. Arthritis Rheum 33:1065-1136
21. Kelley RE 2004 CNS vasculitis. Front Biosci 9:946-955
22. Brandt JT, Triplett DA, Alving B, Scharrer I 1995 Criteria for the diagnosis of lupus anticoagulants: an update. On behalf of the subcommittee on lupus anticoagulant/antiphospholipid antibody of the Scientific and Standardisation Committee of the ISTH. Thromb Haemost 74:1185-1190
23. Juhan-Vague I, Morange PE, Alessi MC 2002 The insulin resistance syndrome: implications for thrombosis and cardiovascular disease. Pathophysiol Haemost Thromb 32:269-273
24. Caballero AE 2004 Endothelial dysfunction, inflammation, and insulin resistance: a focus on subjects at risk for type 2 diabetes. Curr Diab Rep 4:237-246
25. Benseler S, Schneider R 2004 Central systemic vasculitis in children. Curr Opin Rheumatol 16:43-50
26. Galli M, Barbui T 2005 Antiphospholipid syndrome: clinical and diagnostic utility of laboratory tests. Semin Thromb Haemost 31:17-24
27. Cervera R, Piette JC, Font J, Khamashta MA, Shoenfeld Y, Camps MT, Jacobsen S, Lakos G, Tincani A, Kontopoulou-Griva I, Galeazzi M, Meroni PR, Derksen RH, De Groot PG, Gromnica-Ihle E, Baleva M, Mosca M, Bombardieri S, Houssiau F, Gris JC, Querè I, Hachulla E, Vasconcelos C, Roch B, Fernandez-Nebro A, Boffa MC, Hughes GR, Ingelmo M 2002 Antiphospholipid syndrome. Arthritis Rheum 4:1019-1027
28. Cattaneo M 1999 Hyperhomocysteinemia, atherosclerosis and thrombosis. Thromb Haemost 81:165-176
29. Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, Boers GJH, den Heiijer M, Kluijtmans LAJ, van den Heuvel LP, Rozen R 1995 A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 10:111-113