Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30
作者： Miguel Munar-Qués , Jorge L Pedrosa , Teresa Coelho , Leonor Gusmao , Raquel Seruca
DOI: 10.1136/JMG.36.8.629
关键词: Twin study 、 Medical genetics 、 Medicine 、 Familial amyloid neuropathy 、 Monozygotic twin 、 Genetics 、 Neuromuscular disease 、 Neurofibromatosis 、 Facioscapulohumeral muscular dystrophy 、 Myotonic dystrophy
摘要: Twin studies are an important tool in medical genetics for the evaluation of relative roles genetic and non-genetic factors several diseases. Familial amyloidotic polyneuropathy type I (FAP-I), TTR Met 30, was present two sets proven monozygotic (MZ) twins, one from Majorca other Portugal. Monozygosity established by analysis DNA polymorphisms. Both pairs were discordant age at onset some clinical manifestations FAP-I. We reviewed diVerences features both presumed MZ twins with FAP-I compared them those twin Mendelian disorders, such as neurofibromatosis 1, Huntington’s disease, facioscapulohumeral muscular dystrophy, myotonic dystrophy. conclude that, addition to postulated modifying genes, there must be a significant contribution phenotypic variability (age expression), either because enviromental or stochastic events during (or after) twinning process. (J Med Genet 1999;36:629‐632)
sci-hub.se 参考文章(26)
E P Hoffman, C S Richards, S C Watkins, L M Kunkel, J D Cook, K S Katz, J M Cortada, I W Milsark, N R Schneider, Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy. American Journal of Human Genetics. ,vol. 46, pp. 672- 681 ,(1990)
B. R. Migeon, Sakkubai Naidu, G. Thomas, M. A. Dunn, B. J. Schmeckpeper, Studies of X inactivation and isodisomy in twins provide further evidence that the X chromosome is not involved in Rett syndrome. American Journal of Human Genetics. ,vol. 56, pp. 647- 653 ,(1995)
S. M. Huson, D. F. Easton, M. A. Ponder, B. A. J. Ponder, An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes. American Journal of Human Genetics. ,vol. 53, pp. 305- 313 ,(1993)
Michael R. Hayden, Huntington's chorea. South African Medical Journal. ,vol. 59, pp. 250- ,(1981) , 10.1007/978-1-4471-1308-9
Jill Clayton-Smith, Andrew P Read, Dian Donnai, Monozygotic twinning and Wiedemann-Beckwith syndrome. American Journal of Medical Genetics. ,vol. 42, pp. 633- 637 ,(1992) , 10.1002/AJMG.1320420440
T Kajii, K Hagiwara, M Tsukahara, H Nakajima, Y Fukuda, Monozygotic twins discordant for rubinstein-taybi syndrome. Journal of Medical Genetics. ,vol. 18, pp. 312- 314 ,(1981) , 10.1136/JMG.18.4.312
Gosta Holmgren, Yukio Ando, Lars Wikström, Anders Rydh, Ole Suhr, Discordant symptoms in monozygotic twins with familial amyloidotic polyneuropathy (FAP) (TTR Met 30) Amyloid. ,vol. 4, pp. 178- 180 ,(1997) , 10.3109/13506129709014382
Merrill D. Benson, Richard L. Roudebush, Familial amyloidotic polyneuropathy. Trends in Neurosciences. ,vol. 12, pp. 88- 92 ,(1989) , 10.1016/0166-2236(89)90162-8
N. Abbadi, C. Philippe, M. Chery, H. Gilgenkrantz, F. Tome, H. Collin, D. Theau, D. Recan, O. Broux, M. Fardeau, J.-C. Kaplan, S. Gilgenkrantz, Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation American Journal of Medical Genetics. ,vol. 52, pp. 198- 206 ,(1994) , 10.1002/AJMG.1320520215
Steven R. Poole, Ann C. M. Smith, Taru Hays, Loris McGavran, Arleen D. Auerbach, Monozygotic twin girls with congenital malformations resembling fanconi anemia. American Journal of Medical Genetics. ,vol. 42, pp. 780- 784 ,(1992) , 10.1002/AJMG.1320420606