https://scholars.lib.ntu.edu.tw/handle/123456789/547792
標題: | Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome | 作者: | Hung C.-C. SHIN-YU LIN CHIEN-NAN LEE Cheng H.-Y. Lin S.-P. Chen M.-R. Chen C.-P. Chang C.-H. Lin C.-Y. CHIH-CHIEH YU Chiu H.-H. WEN-FANG CHENG HONG-NERNG HO Niu D.-M. Su Y. |
公開日期: | 2009 | 卷: | 73 | 期: | 6 | 起(迄)頁: | 559-567 | 來源出版物: | Annals of Human Genetics | 摘要: | The aim of this study was to establish a national database of mutations in the fibrillin-1 (FBN1) gene that cause Marfan syndrome (MFS) in the Taiwanese population. In this study, we screened 294 patients from 157 families for the presence of FBN1 mutations using polymerase chain reaction/ denaturing high performance liquid chromatography (PCR/DHPLC). We identified 56 mutations in 62 of the 157 (40%) families including 49 single-base substitutions (36 missense mutations, seven nonsense mutations, and six splicing sites), one small insertion, four small deletions, one small indel (insertion and deletion), and one exonic deletion (Exon 36). When family history was taken into consideration, the mutation detection rate rose to 91% (29 of 32). We further investigated the phenotypic data and found that one third (47 of 157) of the families fit the Ghent criteria for MFS. Based on that data, the mutation rate was 98% (46/47). That finding implies that family history and the Ghent criteria play a more important role than clinical manifestations in establishing a clinical diagnosis of Marfan syndrome. Among the 56 mutations found in this study, 40 (71%) have not been registered in the Human Gene Mutation Database (HGMD) or in the Universal Mutation Database (UMD). This is the first study of the mutation spectrum of MFS in a cohort of patients in Taiwan. The database is expected to considerably improve genetic counseling for and medical care of MFS families. ? 2009 The Authors. Journal compilation ? 2009 Blackwell Publishing Ltd/University College London. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-70350540773&doi=10.1111%2fj.1469-1809.2009.00545.x&partnerID=40&md5=9b2ae67366e4b96c4c6146e81af981dd https://scholars.lib.ntu.edu.tw/handle/123456789/547792 |
ISSN: | 0003-4800 | DOI: | 10.1111/j.1469-1809.2009.00545.x | SDG/關鍵字: | fibrillin 1; article; clinical feature; controlled study; diagnostic value; exon; family history; gene deletion; gene insertion; gene mutation; genetic counseling; genetic screening; human; major clinical study; Marfan syndrome; missense mutation; mutation rate; nonsense mutation; nucleic acid base substitution; phenotype; priority journal; RNA splicing; Taiwan; Family Health; Genetic Predisposition to Disease; Humans; Marfan Syndrome; Microfilament Proteins; Mutation; Taiwan |
顯示於: | 醫學系 |
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