Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome

Journal of Medical Genetics

Volumn 33, Issue 8, 1996, Pages 665-671

  Adès, Lesley C ^a   Haan, Eric A ^a   Colley, Alison F ^b   Richards, Robert I ^a  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b Hunter Area Reg Genetics Service   (Australia)

Author keywords

Fibrillin 1 mutations; Marfan syndrome

Indexed keywords

FIBRILLIN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; FEMALE; GENE MUTATION; HUMAN; MALE; MARFAN SYNDROME; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0029745110     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.8.665     Document Type: Article

References (23)

1. Pyeritz RE, McKusick VA. The Marfan syndrome: diagnosis and management. N Engl J Med 1979;300:772-7.
2. 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.
3. Dietz HC, Ramirez F, Sakai LY. Marfan's syndrome and other microfibrillar diseases. In: Harris H, Hirschhorn K, eds. Advances in human genetics. Vol 22. New York: Plenum Press, 1994:168.
4. Dietz HC, Cutting GR, Pyeritz RE, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991;352:337-9.
5. Dietz HC, Saraiva JM, Pyeritz RE, Cutting GR, Francomano CA. Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains. Hum Mutat 1992;1:366-74.
6. Kainulainen K, Pulkkinen L, Savolainen A, Kaitila I, Peltonen L. Location on chromosome 15 of the gene defect causing Marfan syndrome. N Engl J Med 1990;323:935-9.
7. Kainulainen K, Karrtunen L, Puhakka L, Sakai L, Peltonen L. Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. Nature Genet 1994;6:64-9.
8. Milewicz DM, Duvic M. Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15. Am J Hum Genet 1994;54:447-53.
9. Francke U, Berg MA, Tynan K, et al. A Gly1127Ser 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 1995;56:1287-96.
10. Milewicz DM, Grossfield J, Cao S, Kielty C, Covitz W, Jewett T. A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome. J Clin Invest 1995;95:2373-8.
11. 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.
12. Corson GM, Chalberg SC, Dietz HC, Charbonneau NL, Sakai LY. Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5′ end. Genomics 1993;17:476-84.
13. Maslen CL, Corson GM, Maddox BK, Glanville RW, Sakai LY. Partial sequence of a candidate gene for the Marfan syndrome. Nature 1991;353:334-7.
14. Nijbroek G, Sood S, McIntosh I, et al. Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. Am J Hum Genet 1995;57:8-21.
15. Kogan SC, Doherty M, Gitschier J. An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. N Engl J Med 1987;317:985-90.
16. Orita M, Suzuki Y, Sekiya T, Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 1989; 5:874-9.
17. Ford EB. The genetics of polymorphism in the lepidoptera. Adv Genet 1953;5:43-87.
18. Tynan K, Comeau K, Pearson M, et al. Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains. Hum Mol Genet 1993;11:1813-21.
19. Aoyama T, Tynan K, Dietz HC, Francke U, Furthmayr H. Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome. Hum Mol Genet 1993;2:2135-40.
20. Maumenee IH. The eye in Marfan syndrome. Trans Am Ophthal Soc 1981;79:684-733.
21. Subirats-Bayego E, Vila-Subirana T, Torrents-Fernandez A, Sirvent-Sanchez S, Comas-Roses J. Sindrome de Marfan y hernia diafragmatica. Med Clin (Barc) 1983;29:597.
22. Karrtunen L, Raghunath M, Lönnqvist L, Peltonen L. A compound heterozygous Marfan patient: two defective fibrillin alleles results in a lethal phenotype. Am J Hum Genet 1994;55:1083-91.
23. Peltonen L, Karrtunen L, Rantamäki T, Lönnqvist L, Kielty C, Raghunath M, Sakai L. Consequences of fibrillin mutations for fibril formation in Marfan syndrome. Third International Symposium on the Marfan Syndrome, Berlin, September 1994:Abst 35.