Clinical, genetic and environmental factors associated with congenital vertebral malformations

Molecular Syndromology

Volumn 4, Issue 1-2, 2013, Pages 94-105

  Giampietro, P F ^a   Raggio, C L ^d   Blank, R D ^a   McCarty, C ^e   Broeckel, U ^b   Pickart, M A ^c  

^a UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^b MEDICAL COLLEGE OF WISCONSIN   (United States)

^c Department of Pharmaceutical Sciences   (United States)

^d HOSPITAL FOR SPECIAL SURGERY   (United States)

^e ESSENTIA INSTITUTE OF RURAL HEALTH   (United States)

Author keywords

Congenital vertebral malformation; Hemifacial microsomia; Klippel Feil syndrome; Maternal diabetes; Spondylocostal dysostosis; Spondylothoracic dysostosis; Thoracic insufficiency syndrome; VACTERL syndrome

Indexed keywords

CIGARETTE SMOKE; REACTIVE OXYGEN METABOLITE;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME ABERRATION; CLINICAL FEATURE; DISEASE CLASSIFICATION; DISEASE COURSE; ENVIRONMENTAL EXPOSURE; ENVIRONMENTAL FACTOR; EXOME; GENE SEQUENCE; GENETIC ASSOCIATION; HEMIFACIAL MICROSOMIA; HUMAN; IDIOPATHIC SCOLIOSIS; KLIPPEL FEIL SYNDROME; MATERNAL DIABETES MELLITUS; MOLECULAR PATHOLOGY; NONHUMAN; OXIDATIVE STRESS; PREVALENCE; PRIORITY JOURNAL; PROGNOSIS; RISK FACTOR; SCOLIOSIS; SPINE SURGERY; VERTEBRA BODY; VERTEBRA MALFORMATION; CONGENITAL MALFORMATION; CONGENITAL VERTEBRAL MALFORMATION; FORCED EXPIRATORY VOLUME; FORCED VITAL CAPACITY; GENE EXPRESSION; HEREDITY; HYPOXIA; MONOGENIC DISORDER; PATHOGENESIS; PREGNANCY; SPINE FUSION; TOTAL LUNG CAPACITY; VITAL CAPACITY; ZEBRA FISH;

ANIMALIA; DANIO RERIO;

EID: 84874101778     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000345329     Document Type: Article

References (80)

1. Aberg A, Westbom L, Källén B: Congenital malformations among infants whose mothers had gestational diabetes or preexisting diabetes. Early Hum Dev 61: 85-95 (2001).
2. Aburakawa K, Harada M, Otake S: Clinical evaluations of the treatment of scoliosis. Orthop Surg Trauma 39: 55-62 (1996).
3. Akbarnia BA, Emans JB: Complications of growth-sparing surgery in early onset scoliosis. Spine (Phila Pa 1976) 35: 2193-2204 (2010).
4. Alexander PG, Tuan RS: Role of environmental factors in axial skeletal dysmorphogenesis. Birth Defects Res C Embryo Today 90: 118-132 (2010).
5. Alexander PG, Chau L, Tuan RS: Role of nitric oxide in chick embryonic organogenesis and dysmorphogenesis. Birth Defects Res A Clin Mol Teratol 79: 581-594 (2007).
6. Allsopp GM, Griffiths S, Sgouros S: Cervical disc prolapse in childhood associated with Klippel-Feil syndrome. Childs Nerv Syst 17: 69-70 (2001).
7. Bengtsson BE, Larsson A, Bengtsson A, Renberg L: Sublethal effects of tetrachloro-1,2-benzoquinone-a component in bleachery effluents from pulp mills-on vertebral quality and physiological parameters in fourhorn sculpin. Ecotoxicol Environ Saf 15: 62-71 (1988).
8. Bennett GD (2010). Hyperthermia: Malformations to chaperones. Birth Defect Res B Dev Reprod Toxicol 89: 279-288 (2010).
9. Bess S, Akbarnia BA, Thompson GH, Sponseller PD, Shah SA, et al: Complications of growing-rod treatment for early-onset scoliosis: analysis of one hundred and forty patients. J Bone Joint Surg Am 92: 2533-2543 (2010).
10. Bnait KS, Seller MJ: Ultrastructural changes in 9-day-old mouse embryos following maternal tobacco smoke inhalation. Exp Toxicol Pathol 47: 453-461 (1995).
11. Brand MC: Examination of the newborn with congenital scoliosis: focus on the physical. Adv Neonatal Care 8: 265-273 (2008).
12. Breen JG, Claggett TW, Kimmel GL, Kimmel CA: Heat shock during rat embryo development in vitro results in decreased mitosis and abundant cell death. Reprod Toxicol 13: 31-39 (1999).
13. Bulman M, Kusumi K, Frayling TM, McKeown C, Garrett C: Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. Nat Genet 4: 438-441 (2000).
14. Campbell RM Jr, Smith MD, Mayes TC, Mangos JA, Willey-Courand DB, et al: The characteristics of thoracic insufficiency syndrome associated with fused ribs and congenital scoliosis. J Bone Joint Surg Am 85-A:399-408 (2003).
15. Cohen MM Jr, Rollnick BR, Kaye CI: Oculoauriculovertebral spectrum: an updated critique. Cleft Palate J 26: 276-286 (1989).
16. Cooke J, Zeeman EC: A clock and wavefront model for control of the number of repeated structures during animal morphogenesis. J Theor Biol 58: 455-476 (1976).
17. Cornier AS, Staehling-Hampton K, Delventhal KM, Saga Y, Caubet JF, et al: Mutations in the MESP2 gene cause spondylothoracic dysostosis/ Jarcho-Levin syndrome. Am J Hum Genet 82: 1334-1341 (2008).
18. Corsello G, Piro E: The world of twins: an update. J Matern Fetal Neonatal Med 23 Suppl 3: 59-62 (2010).
19. Cousley R, Naora H, Yokoyama M, Kimura M, Otani H: Validity of the Hfm transgenic mouse as a model for hemifacial microsomia. Cleft Palate Craniofac J 39: 81-92 (2002).
20. Farley FA, Loder RT, Nolan BT, Dillon MT, Frankenburg EP, et al: Mouse model for thoracic congenital scoliosis. J Pediatr Orthop 21: 537-540 (2001).
21. Fei Q, Wu Z, Wang H, Zhou X, Wang N, et al: The association analysis of TBX6 polymorphism with susceptibility to congenital scoliosis in a Chinese Han population. Spine (Phila Pa 1976) 35: 983-988 (2010).
22. Fichtner RR, Sullivan KM, Zyrkowski CL, Trowbridge FL: Racial/ethnic differences in smoking, other risk factors, and low birth weight among low-income pregnant women, 1978-1988. MMWR CDC Surveill Summ 39: 13-21 (1990).
23. Gardner WJ: Klippel-Feil syndrome, iniencephalus, anencephalus, hindbrain hernia and mirror movements: overdistention of the neural tube. Childs Brain 5: 361-379 (1979).
24. Ghebranious N, Burmester JK, Glurich I, McPherson E, Ivacic L, et al: Evaluation of SLC35A3 as a candidate gene for human vertebral malformations. Am J Med Genet A 140: 1346-1348 (2006).
25. Ghebranious N, Raggio CL, Blank RD, McPherson E, Burmester JK, et al: Lack of evidence of WNT3A as a candidate gene for congenital vertebral malformations. Scoliosis 2: 13 (2007).
26. Ghebranious N, Blank RD, Raggio CL, Staubli J, McPherson E, et.al. A missense T (Brachyury) mutation contributes to vertebral malformations. J Bone Miner Res 23: 1576-1583 (2008).
27. Giampietro PF, Raggio CL, Reynolds CE, Shukla SK, McPherson E, et al: An analysis of PAX1 in the development of vertebral malformations. Clin Genet 68: 448-453 (2005).
28. Giampietro PF, Raggio CL, Reynolds C, Ghebranious N, Burmester JK, et al: DLL3 as a candidate for vertebral malformations. Am J Med Genet A 140: 2447-2453 (2006).
29. Giampietro PF, et al: Molecular diagnosis of vertebral segmentation disorders in humans. Expert Opin Med Diagn 2: 1107-1121 (2008).
30. Giampietro PF, Raggio CL, Blank RD: Use of synteny conversion in identification of candidate genes for somitogenesis in humans. OJO 2: 62-68 (2012).
31. Gonzaga-Jauregui C, Lupski JR, Gibbs RA: Human genome sequencing in health and disease. Annu Rev Med 63: 35-61 (2012).
32. Guille JT, Miller A, Bowen JR, Forlin E, Caro PA: The natural history of Klippel-Feil syndrome: clinical, roentgenographic, and magnetic resonance imaging findings at adulthood. J Pediatr Orthop 15: 617-626 (1995).
33. Gunderson CH, Solitare GB: Mirror movements in patients with the Klippel-Feil syndrome. Neuropathologic observations. Arch Neurol 18: 675-679 (1968).
34. Hickory W, Nanda R, Catalanotto FA: Fetal skeletal malformations associated with moderate zinc deficiency during pregnancy. J Nutr 109: 883-891 (1979).
35. Hogen T, Chan WM, Riedel E, Brüning R, Chang HH, et al: Wildervanck's syndrome and mirror movements: A congenital disorder of axon migration? J Neurol 259: 761-763 (2012).
36. Holmes LB: Vertebral Anomalies: Hemivertebrae; Common Malformations, pp 283-289 (Oxford University Press, New York 2012).
37. Holmes LB, Harvey EA, Coull BA, Huntington KB, Khoshbin S, et al: The teratogenicity of anticonvulsant drugs. N Engl J Med 344: 1132-1138 (2001).
38. Jacobs-McDaniels NL, Albertson RC: Chd7 plays a critical role in controlling left-right symmetry during zebrafish somitogenesis. Dev Dyn 240: 2272-2280 (2011).
39. Karol LA, Johnston C, Mladenov K, Schochet P, Walters P, Browne RH: Pulmonary function following early thoracic fusion in non-neuromuscular scoliosis. J Bone Joint Surg Am 90: 1272-1281 (2008).
40. Kaspiris A, Grivas TB, Weiss HR: Congenital scoliosis in monozygotic twins: case report and review of possible factors contributing to its development. Scoliosis 3: 17 (2008).
41. Klippel M, Feil A: Un cas d'absence des vertebres cervicales. Nouv Icon Salpet 25: 223 (1912).
42. Lammer EJ, Chen DT, Hoar RM, Agnish ND, Benke PJ, et al: Retinoic acid embryopathy. N Engl J Med 313: 837-841 (1985).
43. Loughnan PM, Gold H, Vance JC: Phenytoin teratogenicity in man. Lancet 1: 70-72 (1973).
44. Martínez-Frías ML, Bermejo E, Rodríguez-Pinilla E, Prieto L, Frías JL: Epidemiological analysis of outcomes of pregnancy in gestational diabetic mothers. Am J Med Genet 78: 140-145 (1998).
45. McMaster M, Ohtsuka K: The natural history of congenital scoliosis. A study of two hundred and fifty-one patients. J Bone Joint Surg Am 64: 1128-1147 (1982).
46. Menegola E, Broccia ML, Nau H, Prati M, Ricolfi R, Giavini E: Teratogenic effects of sodium valproate in mice and rats at midgestation and at term. Teratog Carcinog Mutagen 16: 97-108 (1996).
47. Mortier GR, Lachman RS, Bocian M, Rimoin DL: Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature. Am J Med Genet 61: 310-319 (1996).
48. Moseley JE, Bonforte RJ: Spondylothoracic dysplasia-a syndrome of congenital anomalies. Am J Roentgenol Radium Ther Nucl Med 106: 166-169 (1969).
49. Niemitz EL, Feinberg AP: Epigenetics and assisted reproductive technology: A call for investigation. Am J Hum Genet 74: 599-609 (2004).
50. Offiah A, Alman B, Cornier AS, Giampietro PF, Tassy O, et al: Pilot assessment of a radiologic classification system for segmentation defects of the vertebrae. Am J Med Genet A 152A:1357-1371 (2010).
51. Owen MH, Ryan LM, Holmes LB: Effects of retinoic acid on dominant hemimelia expression in mice. Birth Defects Res A Clin Mol Teratol 85: 36-41 (2009).
52. Papapetrou C, Drummond F, Reardon W, Winter R, Spitz L, Edwards YH: A genetic study of the human T gene and its exclusion as a major candidate gene for sacral agenesis with anorectal atresia. J Med Genet 36: 208-213 (1999).
53. Passarge E, Lenz W: Syndrome of caudal regression in infants of diabetic mothers: observations of further cases. Pediatrics 37: 672-675 (1966).
54. Patten SA, Jacobs-McDaniels NL, Zaouter C, Drapeau P, Albertson RC, Moldovan F: Role of Chd7 in zebrafish: A model for CHARGE syndrome. PloS One 7:e31650 (2012).
55. Purkiss SB, Driscoll B, Cole WG, Alman B: Idiopathic scoliosis in families of children with congenital scoliosis. Clin Orthop Relat Res 27-31 (2002).
56. Rasmussen P: Persistent mirror movements: A clinical study of 17 children, adolescents and young adults. Dev Med Child Neurol 35: 699-707 (1993).
57. Rooryck C, Souakri N, Cailley D, Bouron J, Goizet C, et al: Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum. Am J Med Genet A 152A:1984-1989 (2010).
58. Royal SA, Tubbs RS, D'Antonio MG, Rauzzino MJ, Oakes WJ, et al: Investigations into the association between cervicomedullary neuroschisis and mirror movements in patients with Klippel-Feil syndrome. AJNR Am J Neuroradiol 23: 724-729 (2002).
59. Sköld AC, Wellfelt K, Danielsson BR: Stage-specific skeletal and visceral defects of the I(Kr)-blocker almokalant: further evidence for teratogenicity via a hypoxia-related mechanism. Teratology 2001: 292-300 (2001).
60. Smithells RW: The incidence of limb and ear defects since the withdrawal of thalidomide. Lancet 1: 1095-1097 (1963).
61. Sparrow DB, Chapman G, Wouters MA, Whittock NV, Ellard S, et al: Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. Am J Hum Genet 78: 28-37 (2006).
62. Sparrow DB, Sillence D, Wouters MA, Turnpenny PD, Dunwoodie SL: Two novel missense mutations in HAIRY-AND-ENHANCER-OFSPLIT-7 in a family with spondylocostal dysostosis. Eur J Hum Genet 18: 674-679 (2010).
63. Sparrow DB, Chapman G, Smith AJ, Mattar MZ, Major JA, et al: A mechanism for geneenvironment interaction in the etiology of congenital scoliosis. Cell 149: 295-306 (2012).
64. Takikawa K, Haga N, Maruyama T, Nakatomi A, Kondoh T, et al: Spine and rib abnormalities and stature in spondylocostal dysostosis. Spine (Phila Pa 1976) 31:E192-197 (2006).
65. Tassabehji M, Fang ZM, Hilton EN, Mc-Gaughran J, Zhao Z, et al: Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. Hum Mutat 29: 1017-1027 (2008).
66. Thomsen M, Schneider U, Weber M, Johannisson R, Niethard FU: Scoliosis and congenital anomalies associated with Klippel-Feil syndrome types I-III. Spine (Phila Pa 1976) 22: 396-401 (1997).
67. Tian Y, Ishikawa H, Yamaguchi T, Yamauchi T, Yokoyama K: Teratogenicity and developmental toxicity of chlorpyrifos. Maternal exposure during organogenesis in mice. Reprod Toxicol 20: 267-270 (2005).
68. Treadwell SJ, Smith DF, Macleod PJ, Wood BJ: Cervical spine anomalies in fetal alcohol syndrome. Spine (Phila Pa 1976) 7: 331-334 (1982).
69. Turnpenny P, Whittock N, Duncan J, Dunwoodie S, Kusumi K, Ellard S: Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis. J Med Genet 40: 333-339 (2003).
70. Ulmer JL, Elster AD, Ginsberg LE, Williams DW 3rd: Klippel-Feil syndrome: CT and MR of acquired and congenital abnormalities of cervical spine and cord. J Comput Assist Tomogr 17: 215-224 (1993).
71. Vitale MG, Matsumoto H, Bye MR, Gomez JA, Booker WA, et al: A retrospective cohort study of pulmonary function, radiographic measures, and quality of life in children with congenital scoliosis: an evaluation of patient outcomes after early spinal fusion. Spine (Phila Pa 1976) 33: 1242-1249 (2008).
72. Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, et al: Mutations in a new member of the chromeodomain gene family cause CHARGE syndrome. Nat Genet 36: 955-957 (2004).
73. Vorhees CV: Teratogenicity and developmental toxicity of valproic acid in rats. Teratology 35: 195-202 (1987).
74. Wang R, Martínez-Frías ML, Graham JM Jr: Infants of diabetic mothers are at increased risk for the oculo-auriculo-vertebral sequence: A case-based and case-control approach. J Pediatr 141: 611-617 (2002).
75. Waterland RA, Dolinoy DC, Lin JR, Smith CA, Shi X, Tahiliani KG: Maternal methyl supplements increase offspring DNA methylation at Axin Fused. Genesis 44: 401-406 (2006).
76. Wéry N, Narotsky MG, Pacico N, Kavlock RJ, Picard JJ, Gofflot F: Defects in cervical vertebrae in boric acid-exposed rat embryos are associated with anterior shifts of hox gene expression domains. Birth Defects Res A Clin Mol Teratol 67: 59-67 (2003).
77. Whittock NV, Sparrow DB, Wouters MA, Sillence D, Ellard S, et al: Mutated MESP2 causes spondylocostal dysostosis in humans. Am J Hum Genet 74: 1249-1254 (2004).
78. Wildervank L: The cerrvico-oculo-acusticus syndrome, in Vinken P, Bruyn G, Myrianthopoulous N (eds): Handbook of Clinical Neurology: Congenital Malformations of the Spine and Spinal Cord, vol 32. (North Holland Publishing Co, New York 1978)
79. Wynne-Davies R: Congenital vertebral anomalies: aetiology and relationship to spina bifida cystica. J Med Genet 12: 280-288 (1975).
80. Ye M, Berry-Wynne KM, Asai-Coakwell M, Sundaresan P, Footz T, et al: Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. Hum Mol Genet 19: 287-298 (2010).