A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum

被引：0
|
作者：
Qian Peng
Yan Deng
Yuan Yang
Hanmin Liu
机构：
[1] West China Second University Hospital/West China Women’s and Children’s Hospital,Department of Pediatric Cardiology
[2] West China School of Medicine,Department of Pediatrics
[3] Sichuan University,Department of Cardiovascular Ultrasound and Non
[4] Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University),invasive Cardiology
[5] Ministry of Education,Department of Medical Genetics
[6] Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital,undefined
[7] Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital,undefined
[8] West China Hospital,undefined
[9] West China School of Medicine,undefined
[10] Sichuan University,undefined
来源：
BMC Pediatrics | / 16卷
关键词：
Calcium-binding EGF-like domain; Cysteine substitution; Disulfide bond; Neonatal Marfan syndrome;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 50 条
  • [41] Arts syndrome with a novel missense mutation in the PRPS1 gene: A case report
    Maruyama, Koichi
    Ogaya, Shunsuke
    Kurahashi, Naoko
    Umemura, Ayako
    Yamada, Keitaro
    Hashiguchi, Akihiro
    Takashima, Hiroshi
    Torres, Rosa J.
    Aso, Kosaburo
    BRAIN & DEVELOPMENT, 2016, 38 (10): : 954 - 958
  • [42] Fibrillin 3 Gene Mutation in Chinese Patients with Marfan Syndrome
    Hayat, Khizar
    Yang, Xudong
    Shahzad, Muhammad
    Miao, Li
    Zhang, Lin
    Sun, Nai Xue
    PAKISTAN JOURNAL OF ZOOLOGY, 2011, 43 (05) : 967 - 971
  • [43] Two rare missense mutations in the fibrillin-1 gene associated with atypical cardiovascular manifestations in a Chinese patient affected by Marfan syndrome
    Zhang, Miao
    Zhou, Yaqi
    Peng, Yang
    Jin, Lijun
    MOLECULAR MEDICINE REPORTS, 2018, 18 (01) : 877 - 881
  • [44] Molecular and skeletal characterization of mice with a fibrillin-1 mutation: insight into tissue bioavailability of TGFβ in Marfan syndrome
    Wilson, G.
    Pollock, L.
    Birch, E.
    Parisi, I.
    Duarte, C.
    Stott, B.
    Zarebska, J. M.
    Coveney, C.
    Muhammad, H.
    Vincent, T.
    INTERNATIONAL JOURNAL OF EXPERIMENTAL PATHOLOGY, 2021, 102 (02) : 124 - 125
  • [45] Recurrent spontaneous coronary dissections in a patient with a de novo fibrillin-1 mutation without Marfan syndrome
    von Hundelshausen, Philipp
    Oexle, Konrad
    Bidzhekov, Kiril
    Schmitt, Martin M.
    Hristov, Michael
    Blanchet, Xavier
    Kaemmerer, Harald
    Matyas, Gabor
    Meitinger, Thomas
    Weber, Christian
    THROMBOSIS AND HAEMOSTASIS, 2015, 113 (03) : 668 - 670
  • [46] Familial neonatal marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene
    Tekin, Mustafa
    Cengiz, Filiz Basak
    Ayberkin, Eda
    Kendirli, Tanil
    Fitoz, Suat
    Tutar, Ercan
    Ciftci, Ergin
    Conba, Atakan
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (08) : 875 - 880
  • [47] Analysis of the fibrillin-1 gene (FBN1) in patients with Marfan syndrome
    Valiev, R. R.
    Khusainova, R. I.
    Kutuev, I. A.
    Khusnutdinova, E. K.
    MOLECULAR BIOLOGY, 2006, 40 (06) : 922 - 930
  • [48] Analysis of the fibrillin-1 gene (FBN1) in patients with Marfan syndrome
    R. R. Valiev
    R. I. Khusainova
    I. A. Kutuev
    E. K. Khusnutdinova
    Molecular Biology, 2006, 40 : 922 - 930
  • [49] Three novel mutations of the fibrillin-1 gene and ten single nucleotide polymorphisms of the fibrillin-3 gene in Marfan syndrome patients
    Uyeda, T
    Takahashi, T
    Eto, S
    Sato, T
    Xu, G
    Kanezaki, R
    Toki, T
    Yonesaka, S
    Ito, E
    JOURNAL OF HUMAN GENETICS, 2004, 49 (08) : 404 - 407
  • [50] A recurring FBN1 gene mutation in neonatal Marfan syndrome
    Jacobs, AM
    Toudjarska, I
    Racine, A
    Tsipouras, P
    Kilpatrick, MW
    Shanske, A
    ARCHIVES OF PEDIATRICS & ADOLESCENT MEDICINE, 2002, 156 (11): : 1081 - 1085
12345