Three novel fibrillin mutations in exons 25 and 27: Classic versus neonatal Marfan syndrome

Human Mutation

Volumn 9, Issue 4, 1997, Pages 359-362

  Wang, Mei ^a   Wang, Ji Yi ^a   Cisler, Jason ^a   Imaizumi, Kiyoshi ^b   Burton, Barbara K ^c   Jones, Marilyn C ^d   Lamberti, John J ^d   Godfrey, Maurice ^a  

^a UNIVERSITY OF NEBRASKA AT OMAHA   (United States)

^b KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^c MICHAEL REESE HOSPITAL   (United States)

^d RADY CHILDREN'S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FIBRILLIN;

ADULT; ARTICLE; CASE REPORT; CHILD; DNA DETERMINATION; EXON; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; MARFAN SYNDROME; ONSET AGE; PRIORITY JOURNAL; SKIN BIOPSY;

DNA MUTATIONAL ANALYSIS; EXONS; GENES; HUMANS; INFANT, NEWBORN; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MUTATION; POLYMERASE CHAIN REACTION;

EID: 0030952734     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:4<359::AID-HUMU10>3.0.CO;2-1     Document Type: Article

References (7)

1. 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.
2. Bachet J, Brizard C, Goudot B, Dreyfus G, Teodori G, Brodaty D, Dubois C, Delentdeker P, Guilmet D (1990) Repeated surgery for recurrent dissection of the aorta. Eur J Cardiothorac Surg 4:238-244.
3. Cheng TO (1990) The wrist sign in Marfan syndrome [letter]. Postgrad Med 88:53, 56.
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 (1991) Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 352:337-339.
5. Dietz HC, Pyeritz RE, Puffenberger EG, Kendzior RJ, Corson GM, Maslen CL, Sakai LY, Francomano CA, Cutting GR (1992a) Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene. J Clin Invest 89:1674-1680.
6. Dietz HC, Saraiva JM, Pyeritz RE, Cutting GR, Francomano CA (1992b) Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains. Hum Mutat 1:366-374.
7. Dietz HC, McIntosh I, Sakai LY, Corson GM, Chalberg SC, Pyeritz RE, Francomano CA (1993a) 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.