The pathogenicity of the Pro1148Ala substitution in the FBN1 gene: Causing or predisposing to Marfan syndrome and aortic aneurysm, or clinically innocent?

Human Genetics

Volumn 99, Issue 5, 1997, Pages 607-611

  Schrijver, Iris ^a   Liu, Wanguo ^a   Francke, Uta ^a,b  

^a STANFORD UNIVERSITY   (United States)

^b STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; FIBRILLIN; OLIGONUCLEOTIDE; PROLINE;

ALLELE; AMINO ACID SUBSTITUTION; AORTA ANEURYSM; ARTICLE; ASIAN; CAUCASIAN; CHROMOSOME 15Q; CONNECTIVE TISSUE DISEASE; CONTROLLED STUDY; CRANIOFACIAL SYNOSTOSIS; DNA HYBRIDIZATION; DNA POLYMORPHISM; DNA SEQUENCE; ETHNIC GROUP; EXON; GENE MUTATION; GENE TRANSLOCATION; GENETIC PREDISPOSITION; HUMAN; MAJOR CLINICAL STUDY; MARFAN SYNDROME; NORMAL HUMAN; PATHOGENICITY; POPULATION GENETICS; PRIORITY JOURNAL; RISK FACTOR;

ALANINE; AMINO ACID SEQUENCE; ANIMALS; AORTIC ANEURYSM; ASIA; BASE SEQUENCE; CATTLE; CELLS, CULTURED; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 15; CONNECTIVE TISSUE DISEASES; CONTINENTAL POPULATION GROUPS; DISEASE SUSCEPTIBILITY; DNA PRIMERS; DROSOPHILA; EVOLUTION; EXONS; HOMOZYGOTE; HUMANS; INTRONS; LATIN AMERICA; MARFAN SYNDROME; MICE; MICROFILAMENT PROTEINS; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; PROLINE; REFERENCE VALUES; SKIN; UNITED STATES;

EID: 0030937721     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050414     Document Type: Article

References (28)

1. Altschul SF, Gish W, Miller W, Myers EW, Lipman DJ (1990) Basic local alignment search tool. J Mol Biol 215:403-410
2. Aoyama T, Tynan K, Dietz HC, Francke U, Furthmayr H (1993) Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome. Hum Mol Genet 2:2135-2140
3. Beighton P, de Paepe A, Danks D, Finidori G, Gedde-Dahl T, Goodman R, Hall JG, Hollister DW, Horton W, McKusick VA, Opitz JM, Pope FM, Pyeritz RE, Rimoin DL, Sillence D, Spranger JW, Thompson E, Tsipouras P, Viljoen D, Winship I, Young I (1988) International nosology of heritable disorders of connective tissue, Berlin, 1986. Am J Med Genet 29:581-594
4. Corson GM, Chalberg SC, Dietz HC, Charbonneau NL, Sakai LY (1993) Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5′ end. Genomics 17:476-484
5. De Paepe A, Devereux RB, Dietz HC, Hennekam RCM, Pyeritz RE (1996) Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 62:417-426
6. Dietz HC, Pyeritz RE (1995) Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Hum Mol Genet 4:1799-1809
7. Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, Puffenberger EG, Hamosh A, Nanthakumar EJ, Curristin SM (1991) Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 353:337-339
8. Dietz HC, McIntosh I, Sakai LY, Corson GM, Chalberg SC, Pyeritz RE, Francomano CA (1993) Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. Genomics 17:468-475
9. Dietz HC, Ramirez F, Sakai LY (1994) Marfan's syndrome and other microfibrillar diseases. Adv Hum Genet 22:153-186
10. Dodge RW, Scheraga HA (1996) Folding and unfolding kinetics of the proline-to-alanine mutants of bovine pancreatic ribonuclease A. Biochemistry 35:1548-1559
11. Dracopoli NC, Haines JL, Korf BR, Moir DT, Morton CC, Seidman CE, Smith DR (1995) Current protocols in human genetics. Wiley, New York
12. Francke U, Berg MA, Tynan K, Brenn T, Liu W, Aoyama T, Gasner C, Miller DC, Furthmayr H (1995) A Gly 1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection. Am J Hum Genet 56:1287-1296
13. Handford PA, Baron M, Mayhew M, Willis A, Beesley T, Brownlee GG, Campbell ID (1990) The first EGF-like domain from human factor IX contains a high-affinity calcium binding site. EMBO J 9:475-480
14. Hewett DR, Lynch JR, Godfrey M, Sykes BC (1991) G/A polymorphism in an intron of the fibrillin gene FBNI. Nucleic Acids Res 19:6975
15. Hewett DR, Lynch JR, Smith R, Sykes BC (1993) A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module. Hum Mol Genet 2:475-477
16. Ishihara N, Yamashina S, Sakaguchi M, Mihara K, Omura T (1995) Malfolded cytochrome P-450(M1) localized in unusual membrane structures of the endoplasmic reticulum in cultured animal cells. J Biochem (Tokyo) 118:397-404
17. Kainulainen K, Karttunen L, Puhakka L, Sakai L, Peltonen L (1994) Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. Nat Genet 6: 64-69
18. Karttunen L, Raghunath M, Lonnqvist L, Peltonen L (1994) A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype. Am J Hum Genet 55:1083-1091
19. Nijbroek G, Sood S, McIntosh I, Francomano CA, Bull E, Pereira L, Ramirez F, Pyeritz RE, Dietz HC (1995) Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. Am J Hum Genet 57:8-21
20. Putnam EA, Zhang H, Ramirez F, Milewicz DM (1995) Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. Nat Genet 11:456-458
21. Rao Z, Handford P, Mayhew M, Knott V, Brownlee GG, Stuart D (1995) The structure of a Ca-binding epidermal growth factor-like domain: its role in protein-protein interactions. Cell 82: 131-141
22. Sakai LY, Keene DR, Engvall E (1986) Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. J Cell Biol 103:2499-2509
23. Sood S, Eldadah ZA, Krause WL, McIntosh I, Dietz HC (1996) Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. Nat Genet 12:209-211
24. Tilstra DJ, Li L, Potter KA, Womack J, Byers PH (1994) Sequence of the coding region of the bovine fibrillin cDNA and localization to bovine chromosome 10. Genomics 23:480-485
25. Tynan K, Comeau K, Pearson M, Wilgenbus P, Levitt D, Gasner C, Berg MA, Miller DC, Francke U (1993) Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains. Hum Mol Genet 2:1813-1821
26. Wang M, Mathews K, Godfrey M (1996) P1148A in fibrillin-1: disease causing mutation, disease modifier, or normal polymorphism (abstract)? Braz J Genet 19:132
27. Wood WI, Gitschier J, Lasky LA, Lawn RM (1985) Base composition-independent hybridization in tetramethylammonium chloride: a method for oligonucleotide screening of highly complex gene libraries. Proc Natl Acad Sci USA 82:1585-1588
28. Zhang H, Apfelroth SD, Hu W, Davis EC, Sanguineti C, Bonadio J, Mecham RP, Ramirez F (1994) Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices. J Cell Biol 124:855-863