Increased frequency of congenital heart defects in Menkes disease

Clinical Dysmorphology

Volumn 21, Issue 2, 2012, Pages 59-63

  Hicks, Julia D ^a   Donsante, Anthony ^a   Pierson, Tyler M ^b   Gillespie, Matthew J ^c   Chou, Denise E ^d   Kaler, Stephen G ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d NEW YORK PRESBYTERIAN HOSPITAL   (United States)

Author keywords

ATP7A; congenital heart disease; lysyl oxidase; Menkes disease; occipital horn syndrome

Indexed keywords

CATECHOLAMINE; COPPER; MENKES PROTEIN;

AORTA COARCTATION; ARTICLE; CASE REPORT; CATECHOLAMINE BLOOD LEVEL; CLINICAL EXAMINATION; CONGENITAL HEART MALFORMATION; COPPER METABOLISM; DIFFERENTIAL DIAGNOSIS; FALLOT TETRALOGY; GENE LOCUS; GENE MUTATION; GREAT VESSELS TRANSPOSITION; HEART DEVELOPMENT; HEART DISEASE; HEART SURGERY; HUMAN; INFANT; MALE; MENKES SYNDROME; MISSENSE MUTATION; MORBIDITY; NONSENSE MUTATION; PRIORITY JOURNAL; PULMONARY VALVE STENOSIS; TRANSLUMINAL VALVULOPLASTY; TRANSTHORACIC ECHOCARDIOGRAPHY;

ADENOSINE TRIPHOSPHATASES; CATION TRANSPORT PROTEINS; FATAL OUTCOME; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; INFANT, NEWBORN; MALE; MENKES KINKY HAIR SYNDROME; MUTATION; PROGNOSIS;

EID: 84858286169     PISSN: 09628827     EISSN: 14735717     Source Type: Journal    
DOI: 10.1097/MCD.0b013e32834ea52b     Document Type: Article

References (33)

1. Alcudia JF, Martinez-Gonzalez J, Guadall A, Gonzalez-Diez M, Badimon L, Rodríguez C (2008). Lysyl oxidase and endothelial dysfunction: mechanisms of lysyl oxidase down-regulation by pro-inflammatory cytokines. Front Biosci 13:2721-2727. (Pubitemid 351599714)
2. Ashino T, Sudhahar V, Urao N, Oshikawa J, Chen GF, Wang H, et al. (2010). Unexpected role of the copper transporter ATP7A in PDGF-induced vascular smooth muscle cell migration. Circ Res 107:787-799.
3. Beckers-Trapp ME, Lanoue L, Keen CL, Rucker RB, Uriu-Adams JY (2006). Abnormal development and increased 3-nitrotyrosine in copper-deficient mouse embryos. Free Radic Biol Med 40:35-44. (Pubitemid 41759401)
4. Brown ML, Dearani JA, Burkhart HM (2009). The adult with congenital heart disease: medical and surgical considerations for management. Curr Opin Pediatr 21:561-564.
5. Desai V, Kaler SG (2008). Role of copper in human neurological disorders. Am J Clin Nutr 88:855S-858S.
6. Donsante A, Tang JR, Godwin SC, Holmes CS, Goldstein DS, Bassuk A, Kaler SG (2007). Differences in ATP7A gene expression underlie intra-familial variability in Menkes disease/occipital horn syndrome. J Med Genet 44:492-497. (Pubitemid 47325735)
7. Donsante A, Yi L, Zerfas P, Brinster LR, Sullivan P, Goldstein DS, et al. (2011). ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model. Mol Ther advance online publication 30 August 2011. doi:10.1038/mt.2011.143.
8. Godwin SC, Shawker T, Chang M, Kaler SG (2006). Brachial artery aneurysms in Menkes disease. J Pediatr 149:412-415. (Pubitemid 44308436)
9. Hawk SN, Uriu-Hare JY, Daston GP, Jankowski MA, Kwik-Uribe C, Rucker RB, Keen CL (1998). Rat embryos cultured under copper-deficient conditions develop abnormally and are characterized by an impaired oxidant defense system. Teratology 57:310-320. (Pubitemid 28362548)
10. Hornstra IK, Birge S, Starcher B, Bailey AJ, Mecham RP, Shapiro SD (2003). Lysyl oxidase is required for vascular and diaphragmatic development in mice. J Biol Chem 278:14387-14393. (Pubitemid 36799990)
11. Kaler SG (2011). ATP7A copper transport diseases: emerging concepts and future trends. Nat Rev Neurol 7:15-29.
12. Kaler SG,Westman JA, Bernes SM, Elsayed AM, Bowe CM, Freeman KL, et al. (1993). Gastrointestinal hemorrhage associated with gastric polyps in Menkes disease. J Pediatr 122:93-95. (Pubitemid 23010692)
13. Kaler SG, Gallo LK, Proud VK, Percy AK, Mark Y, Segal NA, et al. (1994). Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Nat Genet 8:195-202. (Pubitemid 24308369)
14. Kaler SG, Holmes CS, Goldstein DS, Tang J, Godwin SC, Donsante A, et al. (2008). Neonatal diagnosis and treatment of Menkes disease. N Engl J Med 358:605-614. (Pubitemid 351214287)
15. Kaler SG, Liew CJ, Donsante A, Hicks JD, Sato S, Greenfield JC (2010). Molecular correlates of epilepsy in early diagnosed and treated Menkes disease. J Inher Metab Dis 33:583-589.
16. Keen CL, Hanna LA, Lanoue L, Uriu-Adams JY, Rucker RB, Clegg MS (2003). Developmental consequences of trace mineral deficiencies in rodents: acute and long-term effects. J Nutr 133 (5 Suppl 1):1477S-1480S. (Pubitemid 36548730)
17. Kennerson ML, Nicholson GA, Kaler SG, Kowalski B, Mercer JF, Tang J, et al. (2010). Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. Am J Hum Genet 86:343-352.
18. Kim BE, Turski ML, Nose Y, Casad M, Rockman HA, Thiele DJ (2010). Cardiac copper deficiency activates a systemic signaling mechanism that communicates with the copper acquisition and storage organs. Cell Metab 11: 353-363.
19. Kosonen T, Uriu-Hare JY, Clegg MS, Keen CL, Rucker RB (1997). Incorporation of copper into lysyl oxidase. Biochem J 327 (Pt 1):283-289. (Pubitemid 27455491)
20. Liu P-C, McAndrew PE, Kaler SG (2002). Rapid and robust screening of the Menkes disease/occipital horn syndrome gene. Genet Test 6:255-260. (Pubitemid 36020048)
21. Liu PC, Chen YW, Centeno J, Quesado M, Lem KE, Kaler SG (2005). Downregulation of myelination, energy, and translational genes in Menkes disease brain. Molec Genet Metab 85:291-300. (Pubitemid 41074113)
22. Mäki JM (2009). Lysyl oxidases in mammalian development and certain pathological conditions. Histol Histopathol 24:651-660.
23. Mäki JM, Räsänen J, Tikkanen H, Sormunen R, Mäkikallio K, Kivirikko KI, Soininen R (2002). Inactivation of the lysyl oxidase gene Lox leads to aortic aneurysms, cardiovascular dysfunction, and perinatal death in mice. Circulation 106: 2503-2509. (Pubitemid 35278809)
24. Moon A (2008). Mouse models of congenital cardiovascular disease. Curr Top Dev Biol 84:171-248.
25. Mototani Y, Miyoshib I, Okamura T, Moriya T, Meng Y, Yuan Pei X, et al. (2006). Phenotypic and genetic characterization of the Atp7a Mo-Tohm mottled mouse: a new murine model of Menkes disease. Genomics 87:191-199. (Pubitemid 43117439)
26. Nemer M (2008). Genetic insights into normal and abnormal heart development. Cardiovasc Pathol 17:48-54.
27. Price D, Ravindranath T, Kaler SG (2007). Internal jugular phlebectasia in Menkes disease. Int J Pediatr Otorhinolaryngol 71:1145-1148. (Pubitemid 46783038)
28. Rodríguez C, Martínez-González J, Raposo B, Alcudia JF, Guadall A, Badimon L (2008). Regulation of lysyl oxidase in vascular cells: lysyl oxidase as a new player in cardiovascular diseases. Cardiovasc Res 79:7-13. (Pubitemid 351881945)
29. Royce PM, Camakaris J, Danks DM (1980). Reduced lysyl oxidase activity in skin fibroblasts from patients with Menkes' syndrome. Biochem J 192:579-586. (Pubitemid 11206828)
30. Sheela SR, Manoj L, Liu P-C, Lem KE, Kaler SG (2005). Copper replacement treatment for symptomatic Menkes disease: ethical considerations. Clin Genet 68:278-283. (Pubitemid 41179556)
31. Tang J, Robertson SP, Lem KE, Godwin SC, Kaler SG (2006). Functional copper transport explains neurologic sparing in occipital horn syndrome. Genet Med 8:711-718. (Pubitemid 44772799)
32. White SR, Reese K, Sato S, Kaler SG (1993). Spectrum of EEG findings in Menkes disease. Electroenceph Clin Neurophysiol 87:57-61. (Pubitemid 23212932)
33. Zeigler VL (2008). Congenital heart disease and genetics. Crit Care Nurs Clin North Am 20:159-169.