C596G mutation in FBN1 causes Marfan syndrome with exotropia in a Chinese family

Molecular Vision

Volumn 21, Issue , 2015, Pages 194-200

  Wang, Fengyun ^a   Li, Bo ^a   Lan, Lan ^a   Li, Lin ^a  

^a HENAN UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; FIBRILLIN 1; GENOMIC DNA; GLYCINE; ACTIN BINDING PROTEIN; FIBRILLIN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CARDIOVASCULAR SYSTEM EXAMINATION; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; DIVERGENT STRABISMUS; DNA EXTRACTION; EXON; EYE EXAMINATION; FBN1 GENE; FEMALE; FOLLOW UP; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; LEUKOCYTE; MALE; MARFAN SYNDROME; MIDDLE AGED; MISSENSE MUTATION; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; PHENOTYPE; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; VENOUS BLOOD; YOUNG ADULT; CASE CONTROL STUDY; CHINA; COMPLICATION; DOMINANT GENE; FAMILY; GENE EXPRESSION; GENETICS; PATHOLOGY; PEDIGREE; POINT MUTATION;

ADULT; AMINO ACID SUBSTITUTION; CASE-CONTROL STUDIES; CHINA; EXOTROPIA; FAMILY; FEMALE; FOLLOW-UP STUDIES; GENE EXPRESSION; GENES, DOMINANT; HUMANS; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MIDDLE AGED; PEDIGREE; PHENOTYPE; POINT MUTATION;

EID: 84924339522     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (34)

1. Judge DP, Dietz HC. Marfan’s syndrome. Lancet 2005; 366:1965-76. [PMID: 16325700].
2. Tomomi UT, Sakumi S, Gang X, Rika K, Tsutomu T, Susumu Y, Esturo I. Three novel mutations of the fibrillin-1 gene and ten single nucleotide polymorphisms of the fibrillin-3 gene in Marfan syndrome patients. J Hum Genet 2004; 49:404-7. [PMID: 15221638].
3. Zhao F, Zhao K, Zhao C. Two novel mutations of fibrillin-1 gene correlate with different phenotypes of Marfan syndrome in Chinese families. Mol Vis 2013; 19:751-8. [PMID: 23592911].
4. Dong J, Du W, Li Y, Jia Y, Li J, Meng X, Yuan M, Peng X, Zhou A, Wang L. A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family. Mol Vis 2012; 18:81-6. [PMID: 22262941].
5. Maconachie GD, McLean RJ. Risk factors and genetics in common comitant strabismus: a systematic review of the literature. JAMA Ophthalmol 2013; 131:1179-86. [PMID: 23846622].
6. Collod-Béroud G, Boileau C. Marfan syndrome in the third Millennium. Eur J Hum Genet 2002; 10:673-81. [PMID: 12404097].
7. Chen XW, Chen FW, Chen FL, Huang Y, Huang Xl, Ma XN, Chen T. Two gene mutation in fibrillin 1 of Marfan syndrome. Chin J med Genet Ophthalmol 2007; 24:440-2.
8. Hao P, Tang X, Song H, Wang LM, Wang YC, Ying M, Han RF, Li ND. Screening of FBN1 gene mutations in a family with Marfan syndrome. Zhonghua Yan Ke Za Zhi 2010; 46:984-8. [PMID: 21211293].
9. Handford PA. Fibrillin-1, a calcium binding protein of extracellular matrix. Biochim Biophys Acta 2000; 1498:84-90. [PMID: 11108952].
10. Collod-Béroud G, Le Bourdelles S, Ades L, Ala KL, Booms P, Boxer M, Child A, Comeglio P, De PA, Hyland JC, Holman K, Kaitila I, Loeys B, Matyas G, Nuytinck L, Peltonen L, Rantamaki T, Robinson P, Steinmann B, Junien C, Beroud C, Boileau C. Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Hum Mutat 2003; 22:199-208. [PMID: 12938084].
11. Chandra A, Patel D, Aragon-Martin JA, Pinard A, Collod-Béroud G, Comeglio P, Boileau C, Faivre L, Charteris D, Child AH. The Revised Ghent Nosology; Reclassifying Isolated Ectopia Lentis. Clin Genet 2014; 12358. [PMID: 24635535].
12. Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst Y, Jondeau G, Faivre L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM. The revised Ghent nosology for the Marfan syndrome. J Med Genet 2010; 47:476-85. [PMID: 20591885].
13. Chen XJ, Wu YA, Chen FW, Chen FL, Huang Y, Huang XL, Ma XL, Chen T. Gene symbol: FBN1. Disease: Marfan syndrome. Hum Genet 2008; 123:106. [PMID: 18386335].
14. Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, Puffenberger EG, Hamosh A, Nanthakumar EJ, Curristin SM. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991; 352:337-9. [PMID: 1852208].
15. Peter N, Robinson PB, Stefanie K, Markus L, Luitgard N, Monika P, Reinhard P, Frank T, Thomas R. Mutations of FBN1 and Genotype-Phenotype Correlations in Marfan Syndrome and Related Fibrillinopathies. Hum Mutat 2002; 20:153-61. [PMID: 12203987].
16. Meng B, Li H, Yang T, Huang S, Sun X, Yuan H. Identification of a novel FBN1 gene mutation in a Chinese family with Marfan syndrome. Mol Vis 2011; 17:2421-7. [PMID: 21976953].
17. Dureau P. Pathophysiology of zonular diseases. Curr Opin Ophthalmol 2008; 19:27-30. [PMID: 18090894].
18. Jiamei J, Wei D, Yuan L, Yanl J, Jian CL. Xiao l M, Ming H Y, Xiao J P, Aimin Z, Le J W. A new novel mutation in FBN1 cause autosomal dominant Marfan syndrome in a Chinese family. Mol Vis 2012; 18:81-6. [PMID: 22262941].
19. Whiteman P, Handford PA. Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders. Hum Mol Genet 2003; 12:727-37. [PMID: 12651868].
20. Harry C, Dietz JS, Reed E. Pyeritz, G R. Cutting Clair A. Francomano: Clustering of Fibrillin (FBN1) Missense Mutations in Marfan Syndrome Patients at Cysteine Residues in EGF-Like Domains. Hum Mutat 1992; 1:366-74. [PMID: 1301946].
21. Cañadas VV, Bruna I, Fuster V. Marfan syndrome. Part 1: pathophysiology and diagnosis. Nature Reviews Cardiology 2010; 7:256-65. [PMID: 20351703].
22. Peter N, Robinson MG. The molecular genetics of Marfan syndrome and related microfibrillopathies. J Med Genet 2000; 37:9-25. [PMID: 10633129].
23. Harry C, Dietz LM, Lynn Y. Sakai, G M. Corson Stephen C C, Reed E, Pyeritz Clair A. Francomano Four Nover FBN1 Mutation: Significance for Mutant Transcript Level and EGF-like Domain Calcium Binding in the pathogenesis of Marfan Syndrome. Genomics 1993; 17:468-75. [PMID: 8406497].
24. Pereira L, Lee SY, Gayraud B, Andrikopoulos K, Shapiro SD, Bunton T, Biery NJ, Dietz HC, Sakai LY, Ramirez F. Pathogenetic sequence for aneurycm revealed in mice underexpressing fibrillin-1. Proc Natl Acad Sci USA 1999; 96:3819-23. [PMID: 10097121].
25. Reinhardt DP, Ono RN, Notbohm H, Müller PK, Bächinger HP, Sakai LY. Mutation in calcium-binding epidermal growth factor modules render fibrillin-1 susceptible to proteolysis. A potential disease-causing mechanism in Marfan syndrome. J Biol Chem 2000; 275:12339-45. [PMID: 10766875].
26. Mizuguchi T, Collod BG, Akiyama T, Abifadel M, Harada N, Morisaki T, Allard D, Varret M, Claustres M, Morisaki H, Ihara M, Kinoshita A, Yoshiura K, Junien C, Kajii T, Jondeau G, Ohta T, Kishino T, Furukawa Y, Nakamura Y, Niikawa N, Boileau C, Matsumoto N. Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet 2004; 36:855-60. [PMID: 15235604].
27. Boileau C, Jondeau G, Mizuguchi T, Matsumoto N. Molecular genetics of Marfan syndrome. Curr Opin Cardiol 2005; 20:194-200. [PMID: 15861007].
28. Izquierdo NJ, Traboulsi EI, Enger C, Maumenee IH. Strabismus in the Marfan syndrome. Am J Ophthalmol 1994; 117:632-5. [PMID: 8172269].
29. Faivre L, Collod BG, Callewaert B, Child A, Binquet C, Gautier E, Loeys BL, Arbustini E, Mayer K, Arslan M, Stheneur C, Kiotsekoglou A, Comeglio P, Marziliano N, Wolf JE, Bouchot O, Khau P, Beroud C, Claustres M, Bonithon C, Robinson PN, Ades L, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C. Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation. Eur J Hum Genet 2009; 17:491-501. [PMID: 19002209].
30. Pepe G, Lapini L, Evangelisti L, Attanasio M, Giusti B, Lucarini L, Fattori R, Pellicanò G, Scrivanti M, Porciani MC, Abbate R, Gensini GF. Is ectopia lentis in some cases a mild phenotypic expression of Marfan syndrome? Need for a long-term follow-up. Mol Vis 2007; 13:2242-7. [PMID: 18087243].
31. Nollen GJ, Groenink M, van der Wall EE, Mulder BJ. Current insights in diagnosis and managament of the cardiovascular complications of Marfan’s syndrome. Cardiol Young 2002; 12:320-7. [PMID: 12206553].
32. Jennifer SK, Edmond A, Murphy, SCD, Reed E P. Progression of aortic dilatation and the benefit of long-term beta-sdrenergic blockade in marfan syndrome. N Engl J Med 1994; 330:1335-41. [PMID: 8152445].
33. Ogawa N, Imai I, Takahashi Y, Nawata K, Hara K, Nishimura H, Kato M, Takeda N, Kohro T, Morita H, Taketani T, Morota T, Yamazaki T, Goto J, Tsuji S, Takamoto S, Nagai R, Hirata Y. Evaluating Japanese patients with the Marfan syndrome using high-throughput microarray-based mutational analysis of fibrillin-1 gene. Am J Cardiol 2011; 108:1801-7. [PMID: 21907952].
34. Comeglio P, Johnson P, Arno G, Brice G, Evans A, Aragon J. da S F, Kiotsekoglou A, Child A. The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. Hum Mutat 2007; 28:928. [PMID: 17657824].