Marfan syndrome with a homozygous FBN1 splicing mutation

被引：2

作者：

Lu, Xin-Xin ^{[1
]}

Xie, Qi ^{[1
,2
]}

Wang, Ren ^{[1
,2
]}

Zhang, Biao ^{[1
]}

Guo, Dan-Dan ^{[1
]}

Huang, Xiao-Li ^{[1
,3
]}

Chen, Xi-Jun ^{[1
,3
]}

Wu, Yan-An ^{[1
,3
]}

机构：

[1] Fujian Med Univ, Shengli Clin Med Coll, Fuzhou, Fujian, Peoples R China

[2] Fujian Prov Hosp, Dept Cardiovasc Surg, Fuzhou, Fujian, Peoples R China

[3] Fujian Prov Hosp, Dept Clin Lab, Fuzhou, Fujian, Peoples R China

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2017年 / 173卷 / 09期

关键词：

MISSENSE MUTATION; PHENOTYPE; GENE; FAMILY;

D O I：

10.1002/ajmg.a.38278

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：2435 / 2438

页数：4

共 14 条

[1] Marfan syndrome: from gene to therapy [J].

Bolar, Nikhita ;

Van Laer, Lut ;

Loeys, Bart L. .

CURRENT OPINION IN PEDIATRICS, 2012, 24 (04) :498-504

[2] Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome [J].

de Vries, Bert B. A. ;

Pals, Gerard ;

Odink, Roelof ;

Hamel, Ben C. J. .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2007, 15 (09) :930-935

[3] The Clinical Spectrum of Missense Mutations of the First Aspartic Acid of cbEGF-like Domains in Fibrillin-1 Including a Recessive Family [J].

Hilhorst-Hofstee, Yvonne ;

Rijlaarsdam, Marry E. B. ;

Scholte, Arthur J. H. A. ;

Swart-van den Berg, Marietta ;

Versteegh, Michel I. M. ;

van der Schoot-van Velzen, Iris ;

Schaebitz, Hans-Joachim ;

Bijlsma, Emilia K. ;

Baars, Marieke J. ;

Kerstjens-Frederikse, Wilhelmina S. ;

Giltay, Jacques C. ;

Hamel, Ben C. ;

Breuning, Martijn H. ;

Pals, Gerard .

HUMAN MUTATION, 2010, 31 (12) :E1915-E1927

[4] Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype [J].

Hogue, J. ;

Lee, C. ;

Jelin, A. ;

Strecker, M. N. ;

Cox, V. A. ;

Slavotinek, A. M. .

CLINICAL GENETICS, 2013, 84 (04) :392-393

[5] Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of marfan syndrome in a national health service laboratory [J].

Howarth, Rachel ;

Yearwood, Catharina ;

Harvey, John F. .

GENETIC TESTING, 2007, 11 (02) :146-152

[6] Marfan syndrome caused by a mutation in FBN1 that gives rise to cryptic splicing and a 33 nucleotide insertion in the coding sequence [J].

Hutchinson, S ;

Wordsworth, BP ;

Handford, PA .

HUMAN GENETICS, 2001, 109 (04) :416-420

[7] Allelic variation in normal human FBN1 expression in a family with Marfan syndrome:: a potential modifier of phenotype? [J].

Hutchinson, S ;

Furger, A ;

Halliday, D ;

Judge, DP ;

Jefferson, A ;

Dietz, HC ;

Firth, H ;

Handford, PA .

HUMAN MOLECULAR GENETICS, 2003, 12 (18) :2269-2276

[8]

KARTTUNEN L, 1994, AM J HUM GENET, V55, P1083

[9] LINKAGE OF MARFAN-SYNDROME AND A PHENOTYPICALLY RELATED DISORDER TO 2 DIFFERENT FIBRILLIN GENES [J].

LEE, B ;

GODFREY, M ;

VITALE, E ;

HORI, H ;

MATTEI, MG ;

SARFARAZI, M ;

TSIPOURAS, P ;

RAMIREZ, F ;

HOLLISTER, DW .

NATURE, 1991, 352 (6333) :330-334

[10] Alternative splicing of exon 37 of FBN1 deletes part of an 'eight-cysteine' domain resulting in the Marfan syndrome [J].

McGrory, J ;

Cole, WG .

CLINICAL GENETICS, 1999, 55 (02) :118-121

← 1 2 →