Identification and study of a FBN1 gene mutation in a Chinese family with ectopia lentis

Molecular Vision

Volumn 18, Issue , 2012, Pages 504-511

  Li, Hongyi ^a   Qu, Wei ^a   Meng, Bo ^a   Zhang, Shuihua ^a   Yang, Tao ^b   Huang, Shangzhi ^b   Yuan, Huiping ^a  

^a HARBIN MEDICAL UNIVERSITY   (China)

^b INSTITUTE OF BASIC MEDICAL SCIENCES   (China)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM BINDING EPIDERMAL GROWTH FACTOR LIKE 7 DOMAIN; CALCIUM BINDING PROTEIN; CYSTEINE; GENOMIC DNA; TYROSINE; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CALCIUM BINDING; CARDIOVASCULAR SYSTEM EXAMINATION; CASE REPORT; CHINESE; CODON; CONTROLLED STUDY; DISULFIDE BOND; DNA EXTRACTION; ECTOPIA LENTIS; EXON; EYE EXAMINATION; FAMILIAL DISEASE; FAMILY HISTORY; FEMALE; FIBRILLIN 1 GENE; GENE; GENE AMPLIFICATION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; HUMAN CELL; INTRON; LEUKOCYTE; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PREDICTION; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DATA BANK; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN STRUCTURE; SEQUENCE ANALYSIS; VENOUS BLOOD;

ANIMALS; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CASE-CONTROL STUDIES; ECTOPIA LENTIS; EXONS; FEMALE; GENOTYPE; HETEROZYGOTE; HUMANS; INTRONS; LENS, CRYSTALLINE; MALE; MICROFILAMENT PROTEINS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, DNA;

EID: 84863233578     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (34)

1. Dietz HC, Pyeritz RE. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Hum Mol Genet 1995; 4:1799-809. [PMID: 8541880]
2. Robinson PN, Godfrey M. The molecular genetics of Marfan syndrome and related microfibrillopathies. J Med Genet 2000; 37:9-25. [PMID: 10633129]
3. Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee 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]
4. Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, Puffenberger EG, Hamosh A, Nanthakumar EJ, Curristin SM, Stetten G, Meyers DA, Francomano CA. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991; 352:337-9. [PMID: 1852208]
5. Mizuguchi T, Collod-Beroud G, 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]
6. Singh KK, Rommel K, Mishra A, Karck M, Haverich A, Schmidtke J, Arslan-Kirchner M. TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys Dietz syndrome. Hum Mutat 2006; 27:770-7. [PMID: 16799921]
7. Sakai H, Visser R, Ikegawa S, Ito E, Numabe H, Watanabe Y, Mikami H, Kondoh T, Kitoh H, Sugiyama R, Okamoto N, Ogata T, Fodde R, Mizuno S, Takamura K, Egashira M, Sasaki N, Watanabe S, Nishimaki S, Takada F, Nagai T, Okada Y, Aoka Y, Yasuda K, Iwasa M, Kogaki S, Harada N, Mizuguchi T, Matsumoto N. Comprehensive genetic analysis of four relevant genes in 49 patients with Marfan syndrome or Marfan-related phenotypes. Am J Med Genet 2006; 140:1719-25. [PMID: 16835936]
8. Sakai LY, Keene DR, Engvall E. Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. J Cell Biol 1986; 103:2499-509. [PMID: 3536967]
9. Collod-Béroud G, Boileau C. Marfan syndrome in the third Millennium. Eur J Hum Genet 2002; 10:673-81. [PMID: 12404097]
10. Stheneur C, Collod-Béroud G, Faivre L, Buyck JF, Gouya L, Le Parc JM, Moura B, Muti C, Grandchamp B, Sultan G, Claustres M, Aegerter P, Chevallier B, Jondeau G, Boileau C. Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene. Eur J Hum Genet 2009; 17:1121-8. [PMID: 19293843]
11. Collod-Béroud G, Le Bourdelles S, Ades L, Ala-Kokko L, Booms P, Boxer M, Child A, Comeglio P, De Paepe A, Hyland JC, Holman K, Kaitila I, Loeys B, Matyas G, Nuytinck L, Peltonen L, Rantamaki T, Robinson P, Steinmann B, Junien C, Béroud 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]
12. Downing AK, Knott V, Werner JM, Cardy CM, Campbell ID, Handford PA. Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders. Cell 1996; 85:597-605. [PMID: 8653794]
13. Tiecke F, Katzke S, Booms P, Robinson PN, Neumann L, Godfrey M, Mathews KR, Scheuner M, Hinkel GK, Brenner RE, Hovels-Gurich HH, Hagemeier C, Fuchs J, Skovby F, Rosenberg T. Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40. Eur J Hum Genet 2001; 9:13-21. [PMID: 11175294]
14. Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Marziliano N, Dietz HC, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Muti C, Plauchu H, Robinson PN, Adès LC, Biggin A, Benetts B, Brett M, Holman KJ, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C. Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Am J Hum Genet 2007; 81:454-66. [PMID: 17701892]
15. Whiteman P, Willis AC, Warner A, Brown J, Redfield C, Handford PA. Cellular and molecular studies of Marfan syndrome mutations identify co-operative protein folding in the cbEGF12-13 region of fibrillin-1. Hum Mol Genet 2007; 16:907-18. [PMID: 17324963]
16. Summers KM, Xu D, West JA, McGill JJ, Galbraith A, Whight CM, Brocque SL, Nataatmadja M, Kong LK, Dondey J, Stark D, West MJ. An integrated approach to management of Marfan syndrome caused by an FBN1 exon 18 mutation in an Australian Aboriginal family. Clin Genet 2004; 65:66-9. [PMID: 15032979]
17. Xu D, Wan F, Wang J. A novel mutation in exon 18 of the FBN1 gene causes Marfan syndrome with cardiovascular and ocular abnormatities. Beijing Medical Journal 2001; 23:34-6.
18. Hao P, Tang X, Song H, Wang L, Wang Y, Ying M, Han R, Li N. Screening of FBNl gene mutations in a family with Marfan syndrome. Zhonghua Yan Ke Za Zhi 2010; 46:984-8. [PMID: 21211293]
19. Katzke S, Booms P, Tiecke F, Palz M, Pletschacher A, Turkmen S, Neumann LM, Pregla R, Leitner C, Schramm C, Lorenz P, Hagemeier C, Fuchs J, Skovby F, Rosenberg T, Robinson PN. TGGE screening of the entire FBN1 coding sequence in 126 individuals with Marfan syndrome and related fibrillinopathies. Hum Mutat 2002; 20:197-208. [PMID: 12203992]
20. Nijbroek G, Sood S, McIntosh I, Francomano CA, Bull E, Pereira L, Ramirez F, Pyeritz RE, Dietz HC. Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. Am J Hum Genet 1995; 57:8-21. [PMID: 7611299]
21. Halliday DJ, Hutchinson S, Lonie L, Hurst JA, Firth H, Handford PA, Wordsworth P. Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice. J Med Genet 2002; 39:589-93. [PMID: 12161601]
22. Hayward C, Rae AL, Porteous ME, Logie LJ, Brock DJ. Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients. Hum Mol Genet 1994; 3:373-5. [PMID: 8004112]
23. Oh MR, Kim JS, Beck NS, Yoo HW, Lee HJ, Kohsaka T, Jin DK. Six novel mutations of the fibrillin-1 gene in Korean patients with Marfan syndrome. Pediatr Int 2000; 42:488-91. [PMID: 11059536]
24. Loeys B, De Backer J, Van Acker P, Wettinck K, Pals G, Nuytinck L, Coucke P, De Paepe A. Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. Hum Mutat 2004; 24:140-6. [PMID: 15241795]
25. Biggin A, Holman K, Brett M, Bennetts B, Adès L. Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy. Hum Mutat 2004; 23:99. [PMID: 14695540]
26. Arbustini E, Grasso M, Ansaldi S, Malattia C, Pilotto A, Porcu E, Disabella E, Marziliano N, Pisani A, Lanzarini L, Mannarino S, Larizza D, Mosconi M, Antoniazzi E, Zoia MC, Meloni G, Magrassi L, Brega A, Bedeschi MF, Torrente I, Mari F, Tavazzi L. Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies. Hum Mutat 2005; 26:494. [PMID: 16222657]
27. Rommel K, Karck M, Haverich A, von Kodolitsch Y, Rybczynski M, Muller G, Singh KK, Schmidtke J, Arslan-Kirchner M. Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome. Hum Mutat 2005; 26:529-39. [PMID: 16220557]
28. Schrijver I, Liu W, Brenn T, Furthmayr H, Francke U. Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes. Am J Hum Genet 1999; 65:1007-20. [PMID: 10486319]
29. Reinhardt DP, Ono RN, Sakai LY. Calcium stabilizes fibrillin-1 against proteolytic degradation. J Biol Chem 1997; 272:1231-6. [PMID: 8995426]
30. Jin C, Yao K, Jiang J, Tang X, Shentu X, Wu R. Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients. Mol Vis 2007; 13:1280-4. [PMID: 17679947]
31. Robinson PN, Booms P. The molecular pathogenesis of the Marfan syndrome. Cell Mol Life Sci 2001; 58:1698-707. [PMID: 11706995]
32. Schrijver I, Liu W, Brenn T, Furthmayr H, Francke U. Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes. Am J Hum Genet 1999; 65:1007-20. [PMID: 10486319]
33. Vollbrandt T, Tiedemann K, El-Hallous E, Lin G, Brinckmann J, John H, Bätge B, Notbohm H, Reinhardt DP. Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1. J Biol Chem 2004; 279:32924-31. [PMID: 15161917]
34. Suk JY, Jensen S, McGettrick A, Willis AC, Whiteman P, Redfield C, Handford PA. Structural consequences of cysteine substitutions C1977Y and C1977R in calcium- binding epidermal growth factor-like domain 30 of human fibrillin-1. J Biol Chem 2004; 279:51258-65. [PMID: 15371449]