文献

1. 遺伝医学関連10学会.遺伝学的検査に関するガイドライン(2003).http://www.congre.co.jp/gene/11guideline.pdf
2. WHO/HGN/ETH. 遺伝医学における倫理的諸問題の再検討(2001),遺伝医学と遺伝サービスにおける倫理的諸問題に関して提案された国際ガイドライン(1998).
    http://jshg.jp/resources/data/WHOguideline.pdf
3. UNESCO. ヒトゲノムと人権に関する世界宣言(1997).http://www.mext.go.jp/unesco/009/005/001.pdf
4. UNESCO. ヒト遺伝情報に関する世界宣言(2003).http://www.mext.go.jp/unesco/009/005/004.pdf
5. 文部科学省,厚生労働省,経済産業省.ヒトゲノム・遺伝子解析研究に関する倫理指針(2004).http://www.lifescience.mext.go.jp/files/pdf/40_126.pdf
6. 厚生労働省.医療・介護関係事業者における個人情報の適切な取り扱いのためのガイドライン(2004).
7. 日本衛生検査協会.ヒト遺伝子検査受託に関する倫理指針(2001).
8. 経済産業省.経済産業分野のうち個人遺伝情報を用いた事業分野における個人情報保護ガイドライン(2004).
9. 日本医学会.医療における遺伝学的検査・診断に関するガイドライン(2011).http://www.jscla.com/g201102guideline.pdf
10. WHO.遺伝医学と遺伝サービスにおける倫理的諸問題に関して提案された国際的ガイドライン.松田一郎監修.福嶋義光編集.日本語訳:松田一郎,友枝かえ
      で.1998.
11. Promoting Safe and Effective Genetic Testing in the United States - Final Report of Task Force on Genetic Testing, Holtzman NA, Watson MS eds.
      Johns Hopkins Univ Press. 1998(要旨の日本語訳は日本人類遺伝学会のホームページ〈http://jshg.jp/resources/index.html〉に収録).
12. Secretary’s Advisory Committee on Genetic Testing: Enhancing the Oversight of Genetic Tests: Recommendations of the SACGT. April 19, 2000
      [日本語訳は日本人類遺伝学会ホームページ〈http://jshg.jp/resources/index.html〉に掲載].
13. Guidelines for the Molecular Genetics Predictive Test in Huntington’s Disease, World Federation of Neurology/International Huntington Association.
      Neurology 1994; 44: 1533-1536.
14. Yamagishi H. Cardiovascular surgery for congenital heart disease associated with trisomy 18. Gen Thorac Cardiovasc Surg 2010; 58: 217-219.
15. Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet 2010; 47: 476-485.
16. Hoffman JI, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol 2002; 39: 1890-1900.
17. Burn J, Wright M, Goodship J, et al. Syndromes involving the heart. In: Anderson RH, Baker EJ, Macartney FJ, et al (eds). Paediatric cardiology.
      2nd ed. London, Churchill Livingstone, 2002: 165-193.
18. Gruber PJ, Epstein JA. Development Gone Awry -Congenital Heart Disease. Circ Res 2004; 94: 273-283.
19. Garg V, Kathiriya IS, Barnes R, et al. GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature 2003;
       424: 443-447.
20. Nemer M. Genetic insights into normal and abnormal heart development. Cardiovasc Pathol 2008; 17: 48-54.
21. Holt M, Oram S. Familial heart disease with skeletal malformations. Br Heart J 1960; 22: 236-242.
22. Basson CT, Crowley GS, Solomon SD, et al. The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome). N Eng J Med 1994;
      330: 885-891.
23. Newbury-Ecob RA, Leanage R, Raeburn JA, et al. Holt-Oram syndrome: a clinical genetic study. J Med Genet 1996; 33: 300-307.
24. Li Q-Y, Newbury-Ecob RA, Terrett JA, et al. Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nat
      Genet 1997; 15: 21-29.
25. Basson CT, Solomon SD, Weissman B, et al. Genetic heterogeneity of heart-hand syndromes. Circulation 1995; 91: 1326-1329.
26. Sletton LJ, Pierpont ME. Variation of cardiac disease in Holt-Oram syndrome. Am J Med Genet 1996; 65: 128-132.
27. Allanson JE, Newbury-Ecob RA. Holt-Oram syndrome: is there a“ face”? Am J Med Genet A 2003; 118: 314-318.
28. Fan C, Liu M, Wang Q. Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome. J Biol Chem 2003; 278: 8780-8785.
29. Van Wilson, Colon FL. The T-box family. Genome Biol 2002; 3: R3008.1-7.
30. Packham EA, Brook JD. T-box genes in human disorders. Hum Mol Genet 2003; 12: R37-44.
31. Basson CT, Huang T, Lin RC, et al. Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. Proc Natl Acad Sci USA
      1999; 96: 2919-2924.
32. Moskowitz IP, Pizard A, Patel VV, et al. The T-Box transcription factor Tbx5 is required for the patterning and maturation of the murine cardiac
      conduction system. Development 2004; 131: 4107-4116.
33. Mori AD, Bruneau BG. TBX5 mutations and congenital heart disease: Holt-Oram syndrome revealed. Curr Opin Cardiol 2004; 19: 211-215.
34. Basson CT. Holt-Oram syndrome vs Heart-Hand syndrome. Circulation 2000; 101: e191.
35. Gruenauer-Kloevekorn C, Froster UG. Holt-Oram syndrome: a new mutation in the TBX gene in unrelated families. Ann Genet 2003; 46: 19-23.
36. Alagille D, Odievre M, Gautier M, et al. Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical,
      mental and sexual development, and cardiac murmur. J Pediatr 1975; 86: 63-71.
37. Alagille D, Estrada A, Hadchouel M, et al. Syndromatic paucity of intralobular bile ducts: review of 80 cases. J Pediatr 1987; 110: 195-200.
38. Oda T, Elkahloun AG, Pike BL, et al. Mutations in the human Jagged 1 gene are responsive for Alagille syndrome. Nat Genet 1997; 16: 235-242.
39. McDaniell R, Warthen DM, Pedro A, et al. NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the Notch signal pathway.
      Am J Hum Genet 2006; 79: 169-173.
40. Krantz ID, Smith R, Colliton RP, et al. Jagged 1 mutations in patients associated with isolated congenital heart defects. Am J Med Genet 1999; 84:
      56-60.
41. McElhinney DB, Krantz ID, Bason L, et al. Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation
      and/or Alagille syndrome. Circulation 2002; 106: 2567-2574.
42. Sugiyama H, Veldtman GR, Norgard G, et al. Bladed balloon angioplasty for peripheral pulmonary arterial stenosis. Catheter Cardiovasc Interv 2004;
      62: 71-77.
43. Schelfer AG, Chan MKH, Ostman-Smith I. Middle aortic syndrome in a boy with arteriohepatic dysplasia (Alaggile syndrome). Pediatr Cardiol 1997;
      18: 232-234.
44. Kamath BM, Spinner NB, Emerick KM, et al. Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality. Circulation 2004;
      109: 1154-1158.
45. Quiros-Tejeira RE, Ament ME, Heyman MB, et al. Variable morbidity in Alagille syndrome: a review of 43 cases. J Pediatr Gastroenterol Nutr 1999;
       29: 431-437.
46. Emerick KM, Rand EB, Goldmuntz E, et al. Features of Alagille syndrome in 92 patients: frequency and relation to prognosis. Hepatology 1999; 29:
      822-829.
47. Lykavieris P, Hadchouel M, Chardot C, et al. Outcome of liver disease in children with Alagille syndrome: a study of 163 patients. Gut 2001; 49: 431-435.
48. Crosnier C, Driancourt C, Raynaud N, et al. Mutations in JAAED1 gene are predominantly sporadic in Alaggile syndrome. Gastroenterology 1999; 116: ]
      1141-1148.
49. Kamath BM, Bason L, Piccoli DA, et al. Consequences of JAG1 mutations. J Med Genet 2003; 40: 891-895.
50. Hofbeck RR, Zweier C, Koch A, et al. Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. J Med Genet 2010; 47: 321-
      331.
51. Spinner NB, Hutchinson AL, Krantz ID, et al. Alagille syndrome. In Pagon RA, Bird TD, Dolan CR, et al. editors. Gene Review. Seattle (WA): University
      of Washington; 1993-2000. [updated 2010. Jul 20].
52. Allanson JE. Noonan syndrome. Cassidy SB. Allanson JE (ed). Management of genetic syndrome. New York, Wiley-Liss. 2001; 253-268.
53. Sharland M, Burch M, McKenna WM, et al. A clinical study of Noonan syndrome. Arch Dis Child 1992; 67: 178-183.
54. Marino B, Digilio MC, Toscano A, et al. Congenital heart diseases in children with Noonan syndrome: an expanded cardiac spectrum with high
      prevalence of atrioventricular canal. J Pediatr 1999; 135: 703-706.
55. Burch M, Sharland M, Shinebourne E, et al. Cardiologic abnormalities in Noonan syndrome: phenotypic diagnosis and echocardiographic assessment of
      118 patients. J Am Coll Cardiol 1993; 22: 1189-1192.
56. Witt DR, McGillivray BC, Allanson JE, et al. Bleeding diasthesis in Noonan syndrome: a common association. Am J Med Genet 1988; 31: 305-317.
57. Van der Burgt I, Thoonen G, Roosenboom N, et al. Pattern of cognitive functioning in school-aged children with Noonan syndrome associated with
      variability in phenotypic expression. J Pediatr 1999; 135: 707-713.
58. Noonan JA, Raaijmakers R, Hall BD. Adult height in Noonan syndrome. Am J Med Genet A 2003; 123A: 68-71.
59. Tartaglia M, Mehler EL, Goldberg R, et al. Mutation n PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet
      2001; 29: 465-468.
60. Jongmans M, Sistermans EA, Rikken A, et al. Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature.
       Am J Med Genet A 2005; 134A: 165-170.
61. Tartaglia M, Pennacchio LA, Zhao C, et al. Gain-offunction SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet 2007; 39: 75-79.
62. Razzaque MA, Nishizawa T, Komoike Y, et al. Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nat Genet 2007; 39: 1013-1017.
63. Coppin BD, Temple BD. Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis). J Med Genet 1997; 34: 582-
      586.
64. Limongelli G, Pacileo G, Marino B, et al. Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome.
      Am J Cardiol 2007; 100: 736-741.
65. Limongelli G, Sarkozy A, Pacileo G, et al. Geneticphenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome. Am J
      Med Genet A 2008; 146A: 620-628.
66. Carey JC, Viskochil DH. Neurofibromatosis type 1: a model condition for the study of the molecular basis of variable expressivity in human disorders.
      Am J Med Genet 1999; 89: 7-13.
67. Tidyman WE, Rauen KA. Noonan, Castello and cardiofacio-cutaneous syndrome: dysregulaton of th RAS-MAPK pathway. Expert Rev Mol Med 2008;
      10: 37.
68. Loyd JE, Butler MG, Foroud TM, et al. Genetic anticipation and abnormal gender ratio at birth in familial primary pulmonary hypertension. Am J Respir
      Crit Care Med 1995; 152: 93-97.
69. 佐地勉. 家族性原発性肺高血圧症 PPH の Genetic anticipation.心臓 2001; 33: 918-920.
70. 佐地勉,門間和夫,柴田利満,他.小児期原発性肺高血圧症の全国調査- 肺移植適応症例患者の実態調査(第 1報).小児循環器学会誌 2000; 6: 136-143.
71. 栗山喬之.肺高血圧の臨床.日胸疾会誌 1992; 30: 3-11.
72. Nichols WC, KollerSlobis B, et al. Localization of the gene for familial primary pulmonary hupertension to chromosome 2q31-32. Nat Genet 1997; 15:
      277-281.
73. Morse JH, Jones AC, Knowles JA, et al. Mapping of familial primary pulmonary hypertension locus (PPH1) to chromosome 2q31-q32, Circulation 1997;
      95: 2603-2606.
74. Deng Z, Morse JH, Slager SL, et al. Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein
      receptor-II gene. Am J Hum Genet 2000; 67: 737-744.
75. Lane KB, Machado RD, Psuciulo JR, et al . The International PPH Consortium. Heterozygous germline mutations in BMPR2, encoding a TGF-beta
      receptor, cause familial primary pulmonary hypertension. Nat Genet 2000; 26: 81-84.
76. Loscalzo J. Genetic clues to the cause of primary pulmonary hypertension. N Engl J Med 2001; 345: 367-371.
77. Newman JH, Wheeler L, Lane KB, et al. Mutations in the gene for bone morphogenetic protein receptor II as a cause of primary pulmonary hypertension
      in a large kindred. N Engl J Med 2001; 345: 319-324. [Errata, N Engl J Med 2001; 345: 1506, 2002; 346: 1258].
78. Atkinson C, Stewart S, Upton P, et al. Primary pulmonary hypertension is associated with reduced pulmonary vascular expression of type II bone
      morphogenetic protein receptor. Circulation 2002; 105: 1672-1678.
79. Machado RD, Aldred MA, James V, et al. Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension. Hum Mutat 2006;
      27: 121-132.
80. Thompson JR, Machado RD, Pauciulo MW, et al. Sporadic primary pulmonary hypertension is associated with germline mutations of the gene
      encoding BMPR-II, a receptor member of the TGF-β family. J Med Genet 2000; 37: 741-745.
81. Morse JH. Bone morphogenetic receptor protein 2 mutations in pulmonary hypertension. Chest 2002; 121: 50-53.
82. Morse JH, Barst RJ, Fotino M, et al. Primary pulmonary hypertension, tissue plasminogen activator antibodies, and HLA-DQ7. Am J Respir Crit Care
      Med 1997; 155: 274-278.
83. Liu F, Ventura F, Doody J, et al. Human type II receptor for bone morphogenic protein (BMPs): extension of the twokinase receptor model to theBMPs.
      Mol Cell Biol 1995; 15: 3479-3486.
84. Ten Dijke P, Goumans NJ, Itoh F, et al. Regulations cell proliferation by SMAD Proteins. J Cell Physiol 2002; 191: 1-16.
85. Bellusci S, Henderson R, Winnier G, et al. Evidence from normal expression and targeted misexpression that bone morphogenetic protein (Bmp-4) plays
      a role in mouse embryonic lung morphogenesis. Development 1996; 122: 1693-1702.
86. McAlliser KA, Grogg KM, JohnsonDW et al. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic
      telangiectasia type 1. Nat Genet 1994; 8: 345-351.
87. Johnson DW, Berg JN, Baldwin MA, et al. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat
      Genet 1996; 13: 189-195.
88. Du L, Sullivan CC, Chu D, et al. Signaling molecules in nonfamilial pulmonary hypertension. N Engl J Med 2003; 348: 500-509.
89. Rudges JS, Thurston G, Yancopoulos GD. Angiopietin-1 and pulmonary hypertension: cause or cure? Circ Res 2003; 92: 947-949.
90. Zhao YD, Campbell AI, Robb M, et al. Protective role of angiopietin-1 in experimental pulmonary hypertension. Circ Res 2003; 92: 984-991.
91. Launay JM, Herve P, Peoc’h K, et al. Function of the serotonin 5-hydroxytryptamine 2B receptor in pulmonary hypertension. Nat. Med 2002; 8:
      1129-1135.
92. MorrellNW, Yang X, Upton PD, et al. Altered growth responses of pulmonary artery smooth muscle cells from patients with primary pulmonary
      hypertension to transforming growth factor-beta (1) and bone morphogenetic proteins. Circulation 2001; 104: 790-795.
93. Strange JW, Wharton J, Phillips PG, et al. Recent insight into the pathogenesis and therapeutics of pulmonary hypertension. Clin Sci 2002; 102: 253-
      268.
94. Newman JH, Fanburg BL, Archer SL, et al. Pulmonary arterial hypertension, Future directions. Circulation 2004; 109: 2947-2952.
95. Newman JH, Trebmath RC, Morse JA, et al. Genetic basis of pulmonary arterial hypertension: current understanding and future directions. J Am Coll
      Cardiol 2004; 43: 33S-39S.
96. Souza R, Humbert M, Sztrymf B, et al. Pulmonary arterial hypertension associated with fenfluramine exposure: report of 109 cases. Eur Respir J 2008;
      31: 343-348.
97. Runo JR, Vnencak-Jones CL, Prince M, et al. Pulmonary veno-occlusive disease caused by an inherited mutation in bone morphogenetic protein receptor
      II. Am J Respir Crit Care Med 2003; 167: 889-894.
98. Grunig E, Mereles D, Arnold K et al. Primary pulmonary hypertension is predominantly a hereditary disease. Chest 2002; 121 (3 Suppl): 81S-82S.
99. Lientz EA, Clayton EW. Psychosocial implications of primary pulmonary hypertension. Am J Hum Genet 2000; 59 (suppl-2): 209-211.
100. Bossone E, Rubenfire M, Bach DS, et al. Range of tricuspid regurgetation velocity at rest and during exercise in normal adult men: implications for the
        diagnosis of pulmonary hypertension. J Am Coll Cardiol 1999; 33: 1662-1663.
心臓血管疾患における遺伝学的検査と遺伝カウンセリングに関する
ガイドライン(2011年改訂版)

Guidelines for Genetic Test and Genetic Councelling in Cardiovascular Disease(JCS 2011)
 
次へ