Legal Medicine
Volume 12, Issue 6 , Pages 305-307 , November 2010

Postmortem genetic analysis for a sudden death case complicated with Marfan syndrome

  • Motonori Takahashi

      Affiliations

    • Department of Legal Medicine, Hyogo College of Medicine, Hyogo 663-8501, Japan
    • ,
  • Takako Sato

      Affiliations

    • Department of Legal Medicine, Osaka Medical College, Osaka 569-8686, Japan
    • ,
  • Minori Nishiguchi

      Affiliations

    • Department of Legal Medicine, Hyogo College of Medicine, Hyogo 663-8501, Japan
    • ,
  • Koichi Suzuki

      Affiliations

    • Department of Legal Medicine, Osaka Medical College, Osaka 569-8686, Japan
    • ,
  • Hajime Nishio

      Affiliations

    • Department of Legal Medicine, Hyogo College of Medicine, Hyogo 663-8501, Japan
    • Corresponding Author InformationCorresponding author. Address: Department of Legal Medicine, Hyogo College of Medicine, 1-1 Mukogawa-cho, Nishinomiya, Hyogo 663-8501, Japan. Tel.: +81 798 45 6576; fax: +81 798 49 3279.

Received 19 February 2010 ,Revised 13 May 2010 ,Accepted 11 June 2010.

References 

  1. Judge DP, Dietz HC. Marfan’s syndrome. Lancet. 2005;366:1965–1976
  2. Béroud C, Collod-Béroud G, Boileau C, Soussi T, Junien C. UMD (Universal mutation database): a generic software to build and analyze locus-specific databases. Hum Mutat. 2000;15:86–94
  3. Klintschar M, Bilkenroth U, Arslan-Kirchner M, Schmidtke J, Stiller D. Marfan syndrome: clinical consequences resulting from a medicolegal autopsy of a case of sudden death due to aortic rupture. Int J Legal Med. 2009;123:55–58
  4. Ripperger T, Tröger HD, Schmidtke J. The genetic message of a sudden, unexpected death due to thoracic aortic dissection. Forensic Sci Int. 2009;187:1–5
  5. Booms P, Tiecke F, Rosenberg T, Hagemeier C, Robinson PN. Differential effect of FBN1 mutations on in vitro proteolysis of recombinant fibrillin-1 fragments. Hum Genet. 2000;107:216–224
  6. Körkkö J, Kaitila I, Lönnqvist L, Peltonen L, Ala-Kokko L. Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. J Med Genet. 2002;39:34–41
  7. Nijbroek G, Sood S, McIntosh I, Francomano CA, Bull E, Pereira L, et al. Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. Am J Hum Genet. 1995;57:8–21
  8. Liu WO, Oefner PJ, Qian C, Odom RS, Francke U. Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders. Genet Test. 1997–1998;1:237–242
  9. Arbustini E, Grasso M, Ansaldi S, Malattia C, Pilotto A, Porcu E, et al. Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies. Hum Mutat. 2005;26:494
  10. Nishio H, Iwata M, Suzuki K. Postmortem molecular screening for cardiac ryanodine receptor type 2 mutations in sudden unexplained death: R420W mutated case with characteristics of status thymico-lymphaticus. Circ J. 2006;70:1402–1406
  11. Nishio H, Iwata M, Tamura A, Miyazaki T, Tsuboi K, Suzuki K. Identification of a novel mutation V2321M of the cardiac ryanodine receptor gene of sudden unexplained death and a phenotypic study of the gene mutations. Leg Med (Tokyo). 2008;10:196–200
  12. Nishio H, Kuwahara M, Tsubone H, Koda Y, Sato T, Fukunishi S, et al. Identification of an ethnic-specific variant (V207M) of the KCNQ1 cardiac potassium channel gene in sudden unexplained death and implications from a knock-in mouse model. Int J Legal Med. 2009;123:253–257
  13. Nishio H, Sato T, Fukunishi S, Tamura A, Iwata M, Tsuboi K, et al. Identification of malignant hyperthermia-susceptible ryanodine receptor type1 gene (RYR1) mutations in a child who died in a car after exposure to a high environmental temperature. Leg Med (Tokyo). 2009;11:142–143

PII: S1344-6223(10)00093-3

doi: 10.1016/j.legalmed.2010.06.003

Legal Medicine
Volume 12, Issue 6 , Pages 305-307 , November 2010

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