Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys-Dietz aortic aneurysm syndrome;: no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome

被引:28
|
作者
Ki, CS [1 ]
Jin, DK [1 ]
Chang, SH [1 ]
Kim, JE [1 ]
Kim, JW [1 ]
Park, BK [1 ]
Choi, JH [1 ]
Park, IS [1 ]
Yoo, HW [1 ]
机构
[1] Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Pediat, Seoul 135710, South Korea
关键词
D O I
10.1111/j.1399-0004.00535.x
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:561 / 563
页数:3
相关论文
共 50 条
  • [1] A TURKISH PATIENT OF TYPICAL LOEYS-DIETZ SYNDROME WITH A TGFBR2 MUTATION
    Tug, E.
    Loeys, B.
    De Paepe, A.
    Aydin, H.
    Gideroglu, K.
    GENETIC COUNSELING, 2010, 21 (02): : 225 - 232
  • [2] A Japanese family of typical loeys-dietz syndrome with a TGFBR2 mutation
    Togashi, Yosuke
    Sakoda, Hiroto
    Nishimura, Akira
    Matsumoto, Naomichi
    Hiraoka, Hisatoyo
    Matsuzawa, Yuji
    INTERNAL MEDICINE, 2007, 46 (24) : 1995 - 2000
  • [3] TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome
    Singh, Krishna Kumar
    Rommel, Kathrin
    Mishra, Anjali
    Karck, Matthias
    Haverich, Axel
    Schmidtke, Joerg
    Arslan-Kirchner, Mine
    HUMAN MUTATION, 2006, 27 (08) : 770 - 777
  • [4] Identification of a Pathogenic TGFBR2 Variant in a Patient With Loeys-Dietz Syndrome
    Luo, Xi
    Deng, Shan
    Jiang, Ying
    Wang, Xiang
    Al-raimi, Abdulrahman Mustafa Ahmed
    Wu, Long
    Liu, Xiaobin
    Song, Yu
    Chen, Xiao
    Zhu, Feng
    FRONTIERS IN GENETICS, 2020, 11
  • [5] Dural ectasia in Loeys-Dietz syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation
    Sheikhzadeh, S.
    Brockstaedt, L.
    Habermann, C. R.
    Sondermann, C.
    Bannas, P.
    Mir, T. S.
    Staebler, A.
    Seidel, H.
    Keyser, B.
    Arslan-Kirchner, M.
    Kutsche, K.
    Berger, J.
    Blankenberg, S.
    von Kodolitsch, Y.
    CLINICAL GENETICS, 2014, 86 (06) : 545 - 551
  • [6] Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation
    Valenzuela, Irene
    Fernandez-Alvarez, Paula
    Munell, Francina
    Sanchez-Montanez, Angel
    Giralt, Gemma
    Vendrell, Teresa
    Tizzano, Eduardo F.
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2017, 60 (06) : 303 - 307
  • [7] Valve-sparing aortic root replacement in Loeys-Dietz syndrome and a novel mutation in TGFBR2
    Kasar, Taner
    Gezdirici, Alper
    Ayyildiz, Pelin
    Haydin, Sertac
    Guzeltas, Alper
    ANATOLIAN JOURNAL OF CARDIOLOGY, 2018, 19 (01): : 74 - 77
  • [8] Familial exudative vitreoretinopathy with TGFBR2 mutation without signs of Loeys-Dietz syndrome
    Asano, Toshiaki
    Oku, Kazuma
    Kondo, Hiroyuki
    OPHTHALMIC GENETICS, 2021, 42 (05) : 637 - 640
  • [9] Loeys-Dietz syndrome associated with a heterozygous mutation in TGFBR2 in a female infant: A case report
    Zhu, Chun
    Tong, Meiling
    Chi, Xia
    EXPERIMENTAL AND THERAPEUTIC MEDICINE, 2021, 21 (01)
  • [10] Atypical type A aortic dissection caused by Loeys-Dietz syndrome with a novel mutation in TGFBR2: Report of a rare case
    Wang, Zhidong
    Wang, Min
    Qian, Yongxiang
    Wang, Bin
    ASIAN JOURNAL OF SURGERY, 2024, 47 (12) : 5325 - 5326