Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement

Orphanet Journal of Rare Diseases

Gabor Matyas¹  Tamás Radovits²  Béla Merkely²  Miklós Pólos³  Kálmán Benke³  Zoltán Szabolcs³  Bence Ágg⁴  Roland Stengl⁵  Dóra Csabán⁶  Mária Judit Molnár⁶  Bálint Fekete⁶  András Bors⁷  Hajnalka Andrikovics⁷ 

[1] Center for Cardiovascular Genetics and Gene Diagnostics, Foundation for People With Rare Diseases, Wagistrasse 25, 8952, Schlieren, Zurich, Switzerland;Heart and Vascular Center, Semmelweis University, Városmajor u. 68, 1122, Budapest, Hungary;Heart and Vascular Center, Semmelweis University, Városmajor u. 68, 1122, Budapest, Hungary;Hungarian Marfan Foundation, Városmajor u. 68, 1122, Budapest, Hungary;Heart and Vascular Center, Semmelweis University, Városmajor u. 68, 1122, Budapest, Hungary;Hungarian Marfan Foundation, Városmajor u. 68, 1122, Budapest, Hungary;Department of Pharmacology and Pharmacotherapy, Semmelweis University, Üllői út 26, 1085, Budapest, Hungary;Heart and Vascular Center, Semmelweis University, Városmajor u. 68, 1122, Budapest, Hungary;Hungarian Marfan Foundation, Városmajor u. 68, 1122, Budapest, Hungary;Laboratory of Molecular Genetics, Central Hospital of Southern Pest, National Institute of Hematology and Infectious Diseases, Albert Flórián út 5-7, 1097, Budapest, Hungary;Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Tömő u. 25-29, 1083, Budapest, Hungary;Laboratory of Molecular Genetics, Central Hospital of Southern Pest, National Institute of Hematology and Infectious Diseases, Albert Flórián út 5-7, 1097, Budapest, Hungary;

关键词: Marfan syndrome;    Genetic testing;    Aortic involvement;    Risk stratification;    FBN1;    Next-generation sequencing;    MLPA;    Gene panel;    Cardiac surgery;   

DOI  :  10.1186/s13023-020-01569-4

来源: Springer

【 授权许可】

CC BY