Idiopathic scoliosis: Identification of candidate regions on chromosome 19p13

Spine

Volumn 31, Issue 16, 2006, Pages 1815-1819

  Alden, Kris J ^a   Marosy, Beth ^a   Nzegwu, Nneka ^a   Justice, Cristina M ^b   Wilson, Alexander F ^b   Miller, Nancy H ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

Chromosome 19; Genomic screen; Idiopathic scoliosis; Linkage analysis

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 19P; CHROMOSOME MAP; DATA ANALYSIS; DISEASE MARKER; FAMILY; FEMALE; GENE LOCUS; GENETIC LINKAGE; GENOTYPE; HUMAN; IDIOPATHIC SCOLIOSIS; INHERITANCE; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL; QUANTITATIVE TRAIT; STATISTICS; X CHROMOSOME LINKED DISORDER;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 19; GENETIC MARKERS; GENETIC SCREENING; HUMANS; LINKAGE (GENETICS); SCOLIOSIS; SPINE;

EID: 33746082399     PISSN: 03622436     EISSN: 15281159     Source Type: Journal    
DOI: 10.1097/01.brs.0000227264.23603.dc     Document Type: Article

References (46)

1. Bunnell WP. The natural history of idiopathic scoliosis before skeletal maturity. Spine 1986;11:773-6.
2. Lonstein JE, Carlson JM. The prediction of curve progression in untreated idiopathic scoliosis during growth. J Bone Joint Surg 1984;66A:1061-71.
3. Kane WJ. Scoliosis prevalence: A call for a statement of terms. Clin Orthop Relat Res 1977;126:43-6.
4. Weinstein SL, Ponseti IV. Curve progression in idiopathic scoliosis. J Bone Joint Surg 1983;65A:447-55.
5. Weinstein SL. Adolescent idiopathic scoliosis: Prevalence and natural history. In: Weinstein SL, ed. The Pediatric Spine: Principles and Practice. New York, NY: Raven Press; 1994:463-78.
6. Nilsonne U, Lundgren KD. Long-term prognosis in idiopathic scoliosis. Acta Orthop Scand 1968;39:456-65.
7. Bonaiti C, Feingold J, Briard ML, et al. Genetics of idiopathic scoliosis [in French]. Helv Paediatr Acta 1976;31:229-40.
8. Carr AJ. Adolescent idiopathic scoliosis in identical twins. J Bone Joint Surg 1990;72B:1077.
9. Czeizel A, Bellyei A, Barta O, et al. Genetics of adolescent idiopathic scoliosis. J Med Genet 1978;15:424-7.
10. Filho NA, Thompson MW. Genetic studies in scoliosis [abstract]. J Bone Joint Surg 1971;53A:199.
11. Garland HG. Hereditary scoliosis. BMJ 1934;1:328.
12. Kesling KL, Reinker KA. Scoliosis in twins. A meta-analysis of the literature and report of six cases. Spine 1997;22:2009-14.
13. Riseborough EJ, Wynne-Davies R. A genetic survey of idiopathic scoliosis in Boston, MA. J Bone Joint Surg 1973;55A:974-82.
14. Wynne-Davies R. Familial (idiopathic) scoliosis. A family survey. J Bone Joint Surg 1968;50B:24-30.
15. Cowell HR, Hall JN, MacEwen GD. Familial patterns in idiopathic scoliosis [abstract]. J Bone Joint Surg 1969;51A:1236.
16. Axenovich TI, Zaidman AM, Zorkoltseva IV, et al. Segregation analysis of idiopathic scoliosis: Demonstration of a major gene effect. Am J Med Genet 1999;86:389-94.
17. Wise CA, Barnes R, Gillum J, et al. Localization of susceptibility to familial idiopathic scoliosis. Spine 2000;25:2372-80.
18. Salehi LB, Mangino M, De Serio S, et al. Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11. Hum Genet 2002;111:401-4.
19. Chan V, Fong GCY, Luk KDK, et al. A genetic locus for adolescent idiopathic scoliosis linked to chromosome 19p13.3. Am J Hum Genet 2002;71:401-6.
20. Miller NH, Justice CM, Marosy B, et al. Identification of candidate regions for familial idiopathic scoliosis. Spine 2005;30:1181-7.
21. Justice CM, Miller NH, Marosy B, et al. Familial idiopathic scoliosis: Evidence of an X-linked susceptibility locus. Spine 2003;28:589-94.
22. Armstrong GWD, Livermore NB III, Suzuki N, et al. Nonstandard vertebral rotation in scoliosis screening patients. Its prevalence and relation to the clinical deformity. Spine 1982;7:50-4.
23. Shands AR Jr, Eisberg HB. The incidence of scoliosis in the state of Delaware. A study of 50,000 minifilms of the chest made during a survey for tuberculosis. J Bone Joint Surg 1955;37A:1243-9.
24. Boileau C, Jondeau G, Babron MC, et al. Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes. Am J Hum Genet 1993;53:46-54.
25. Shapiro JR, Burn VE, Chipman SD, et al. Osteoporosis and familial idiopathic scoliosis: Association with an abnormal alpha 2(I) collagen. Connect Tissue Res 1989;21:117-23.
26. Miller NH, Schwab DL, Sponseller PD, et al. Characterization of idiopathic scoliosis in a clinically well-defined population. Clin Orthop Relat Res 2001;392:349-57.
27. Miller NH, Sponseller P, Shugert E, et al. Genomic search for X-linkage in familial adolescent idiopathic scoliosis. In: Stokes IAF, ed. Research into Spinal Deformities 2. Amsterdam, Netherlands: IOS Press; 1999:209-12.
28. Moore D, Dowhan D. Purification and concentration of DNA from aqueous solutions. In: Ausubel FM, Brent R, Kingston RE, et al, eds. Current Protocols in Molecular Biology. New York, NY: John Wiley & Sons; 2002:2.1.1-2.1.10.
29. O'Connell JR, Weeks DE. The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance. Nat Genet 1995;11:402-8.
30. Boehnke M, Cox NJ. Accurate inference of relationships in sib-pair linkage studies. Am J Hum Genet 1997;61:423-9.
31. Broman KW, Weber JL. Estimation of pairwise relationships in the presence of genotyping errors. Am J Hum Genet 1998;63:1563-4.
32. O'Connell JR, Weeks DE. PedCheck: A program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 1998;63:259-66.
33. Mammalian Genotyping Service. National Heart, Lung, and Blood Institute. Available at: http://research.marshfieldclinic.org/genetics. Accessed November 2005.
34. Ensembl Genome Browser. Available at: www.ensembl.org. Accessed November 2005.
35. Dietz HC, Cutting GR, Pyeritz RE, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991;352:337-9.
36. Lee B, Godfrey M, Vitale E, et al. Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. Nature 1991;352:330-4.
37. Corson GM, Charbonneau NL, Keene DR, et al. Differential expression of fibrillin-3 adds to microfibril variety in human and avian, but not rodent, connective tissues. Genomics 2004;83:461-72.
38. Schwengel DA, Nouri N, Meyers DA, et al. Linkage mapping of the human thromboxane A2 receptor (TBXA2R) to chromosome 19p13.3 using transcribed 3′ untranslated DNA sequence polymorphisms. Genomics 1993;18:212-5.
39. Floman Y, Liebergall M, Robin GC, et al. Abnormalities of aggregation, thromboxane A2 synthesis, and 14C serotonin release in platelets of patients with idiopathic scoliosis. Spine 1983;8:236-41.
40. Kahmann RD, Donohue JM, Bradford DS, et al. Platelet function in adolescent idiopathic scoliosis. Spine 1992;17:145-8.
41. Kindsfater K, Lowe T, Lawellin D, et al. Levels of platelet calmodulin for the prediction of progression and severity of adolescent idiopathic scoliosis. J Bone Joint Surg 1994;76A:1186-92.
42. Muhlrad A, Yarom R. Contractile protein studies on platelets from patients with idiopathic scoliosis. Haemostasis 1982;11:154-60.
43. Yarom R, Blatt J, Gorodetsky R, et al. Microanalysis and X-ray fluorescence spectrometry of platelets in diseases with elevated muscle calcium. Eur J Clin Invest 1980;10:143-7.
44. Yarom R, Meyer S, More R, et al. Metal impregnation abnormalities in platelets of patients with idiopathic scoliosis. Haemostasis 1982;12:282-8.
45. Lowe T, Lawellin D, Smith D, et al. Platelet calmodulin levels in adolescent idiopathic scoliosis: Do the levels correlate with curve progression and severity? Spine 2002;27:768-75.
46. Lowe TG, Burwell RG, Dangerfield PH. Platelet calmodulin levels in adolescent idiopathic scoliosis (AIS): Can they predict curve progression and severity? Summary of an electronic focus group debate of the IBSE. Eur Spine J 2004;13:257-65.