Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: Report of 12 novel mutations

Human Mutation

Volumn 10, Issue 4, 1997, Pages 280-289

  Hayward, Caroline ^a   Porteous, Mary E ^a   Brock, David J H ^a  

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

Author keywords

Fibrillin; Marfan syndrome; Mutation screening

Indexed keywords

AMINO ACID; DNA; FIBRILLIN; HETERODUPLEX; NUCLEOTIDE; RNA;

ALLELE; ARTICLE; CHROMOSOME 15Q; CONTROLLED STUDY; EXON; GENE; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MARFAN SYNDROME; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM;

AMINO ACID SEQUENCE; EXONS; FEMALE; HUMANS; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEIC ACID HETERODUPLEXES; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RESTRICTION MAPPING; RNA SPLICING;

EID: 0030954731     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)10:4<280::AID-HUMU3>3.0.CO;2-L     Document Type: Article

References (8)

1. Aoyama T, Francke U, Dietz HC, Furthmayr H (1994) Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms. J Clin Invest 94:130-137.
2. 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. Am J Med Genet 29:581-594.
3. Collod G, Beroud C, Soussi T, Junien C, Boileau C (1996) Software and database for the analysis of mutations in the human FBN1 gene. Nucleic Acid Res 24:137-140.
4. Corson CM, 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-prime end. Genomics 17:476-484.
5. De Paepe A, Devereaux 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, Cutting OR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, Puffenberger EG, Hamosh A, Nanthakumar EJ, Curristin SM, Stetten G, Meyers DA, Francomano CA (1991) Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 352:337-339.
7. Godfrey M, Menashe V, Weleber RG, Koler RD, Bigley RH, Lovrien E, Zonana J, Hollister DW (1990) Cosegregation of elastin-associated microfibrillar abnormalities with the Marfan phenotype in families. Am J Hum Genet 46:652-660.
8. Grossfield J, Cao S, Milewicz DM (1993) Mutations in the carboxy terminus of FBN1 suggest a potential genotype/phenotype correlation in the Marfan syndrome. Am J Hum Genet 53:Abstract 1167.