Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome

Molecular Vision

Volumn 18, Issue , 2012, Pages 1918-1926

  Micheal, Shazia ^a,b   Khan, Muhammad Imran ^a,b   Akhtar, Farah ^c   Weiss, Marjan M ^d   Islam, Farah ^c   Ali, Mehmood ^c   Qamar, Raheel ^a,e   Maugeri, Alessandra ^d   den Hollander, Anneke I ^b  

^a COMSATS Institute of Information Technology ^*  (Pakistan)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c AL SHIFA TRUST EYE HOSPITAL   (Pakistan)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^e SHIFA COLLEGE OF MEDICINE   (Pakistan)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM BINDING PROTEIN; CYSTEINE; EPIDERMAL GROWTH FACTOR; FIBRILLIN 1; PHENOL; SERINE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BLOOD SAMPLING; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DNA ISOLATION; ECTOPIA LENTIS; EXON; FEMALE; FIBRILLIN 1 GENE; GENE; GENE IDENTIFICATION; GENETIC CODE; GLAUCOMA; HETEROZYGOSITY; HUMAN; MALE; MARFAN SYNDROME; MISSENSE MUTATION; MUTATIONAL ANALYSIS; MYOPIA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DOMAIN; RESIDUE ANALYSIS; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCHOOL CHILD; SEQUENCE ANALYSIS;

ADOLESCENT; ADULT; CASE-CONTROL STUDIES; CHILD; CONSANGUINITY; ECTOPIA LENTIS; EXONS; FEMALE; GENES, DOMINANT; GLAUCOMA; HETEROZYGOTE; HUMANS; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MIDDLE AGED; MUTATION, MISSENSE; PAKISTAN; PEDIGREE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SEQUENCE ANALYSIS, DNA;

EID: 84865805011     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (24)

1. Loeys B, Nuytinck L, Delvaux I, De Bie S, De Paepe A. Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. Arch Intern Med 2001; 161:2447-54. [PMID: 11700157]
2. 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]
3. Charteris DG. Ophthalmic abnormalities in Marfan syndrome. In: Child, AH Briggs MJ, editors. The Marfan Syndrome: A Clinical Guide. London: British Heart Foundation; 2002. p. 52-53.
4. Hasan A, Poloniecki J, Child A. Ageing in Marfan syndrome. Int J Clin Pract 2007; 61:1308-20. [PMID: 17627709]
5. Collod-Béroud G, Boileau C. Marfan syndrome in the third Millennium. Eur J Hum Genet 2002; 10:673-81. [PMID: 12404097]
6. Hubmacher D, Tiedemann K, Reinhardt DP. Fibrillins: from biogenesis of microfibrils to signaling functions. Curr Top Dev Biol 2006; 75:93-123. [PMID: 16984811]
7. Ramirez F, Sakai LY. Biogenesis and function of fibrillin assemblies. Cell Tissue Res 2010; 339:71-82. [PMID: 19513754]
8. Handford PA, Mayhew M, Baron M, Winship PR, Campbell ID, Brownlee GG. Key residues involved in calcium-binding motifs in EGF-like domains. Nature 1991; 351:164-7. [PMID: 2030732]
9. Werner JM, Knott V, Handford PA, Campbell ID, Downing AK. Backbone dynamics of a cbEGF domain pair in the presence of calcium. J Mol Biol 2000; 296:1065-78. [PMID: 10686104]
10. Robinson PN, Booms P, Katzke S, Ladewig M, Neumann L, Palz M, Pregla R, Tiecke F, Rosenberg T. Mutations of FBN1 and genotype phenotype correlations in Marfan syndrome and related fibrillinopathies. Hum Mutat 2002; 20:153-61. [PMID: 12203987]
11. 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]
12. Sambrook J, Russell DW, Sambrook J. The condensed protocols from Molecular cloning: a laboratory manual. Cold Spring Harbor (NY): Cold Spring Harbor Laboratory Press; 2006.
13. Collod-Béroud G, Boileau C. Marfan Syndrome: A Primer for Clinicians and Scientists, Eurekah. com and Luwer Academic/Plenum Publishers; 2004. p. 1-11.
14. Sakai LY, Keene DR, Glanville RW, Bächinger HP. Purification and partial characterization of fibrillin, a cysteine-rich structural component of connective tissue microfibrils. J Biol Chem 1991; 266:14763-70. [PMID: 1860873]
15. Dietz HC, McIntosh I, Sakai LY, Corson GM, Chalberg SC, Pyeritz RE, Francomano CA. Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. Genomics 1993; 17:468-75. [PMID: 8406497]
16. Schrijver I, Liu W, Odom R, Brenn T, Oefner P, Furthmayr H, Francke U. Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes. Am J Hum Genet 2002; 71:223-37. [PMID: 12068374]
17. 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]
18. Biggin A, Holman K, Brett M, Bennetts B. Ade's L. Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy. Hum Mutat 2004; 23:99. [PMID: 14695540]
19. Arbustini E, Grasso M, Ansaldi S, Malattia C, Pilotto A, Porcu E, Disabella E, Marziliano N, Pisani A, Lanzarini L, 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 eightyone unrelated probands with Marfan syndrome and other fibrillinopathies. Hum Mutat 2005; 26:494. [PMID: 16222657]
20. 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]
21. Pepe G, Giusti B, Evangelisti L, Porciani MC, Brunelli T, Giurlani L, Attanasio M, Fattori R, Bagni C, Comeglio P, Abbate R, Gensini GF. Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: genotype-phenotype correlation. Clin Genet 2001; 59:444-50. [PMID: 11453977]
22. Détaint D, Faivre L, Collod-Beroud G, Child AH, Loeys BL, Binquet C, Gautier E, Arbustini E, Mayer K, Arslan-Kirchner M, Stheneur C, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Plauchu H, Robinson PN, Kiotsekoglou A, De Backer J, Adès L, Francke U, De Paepe A, Boileau C, Jondeau G. Cardiovascular manifestations in men and women carrying a FBN1 mutation. Eur Heart J 2010; 31:2223-9. [PMID: 20709720]
23. Black C, Withers AP, Gray JR, Bridges AB, Craig A, Baty DU, Boxer M. Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype. Hum Mutat 1998:S198-200. [PMID: 9452085]
24. Nelson LB, Maumenee IH. Ectopia lentis. Surv Ophthalmol 1982; 27:143-60. [PMID: 6984233]