Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial marfan syndrome phenotype
Cheryl Black
Molecular Genetics Laboratory, Department of Pathology, Ninewells Hospital and Medical School, Dundee, DD1 9SY, UK
Search for more papers by this authorAnne P. Withers
Molecular Genetics Laboratory, Department of Pathology, Ninewells Hospital and Medical School, Dundee, DD1 9SY, UK
Search for more papers by this authorJonathon R. Gray
Institute of Medical Genetics, University of Wales, Cardiff, UK
Search for more papers by this authorAllan B. Bridges
Department of Medicine, Stirling Royal Infirmary, Livilands Road, Stirling, SK8 2AU, UK
Search for more papers by this authorAshley Craig
Department of Biochemistry, University of Dundee, Dundee, DD1 4HN, UK
Search for more papers by this authorDavid U. Baty
Molecular Genetics Laboratory, Department of Pathology, Ninewells Hospital and Medical School, Dundee, DD1 9SY, UK
Search for more papers by this authorCorresponding Author
Dr. Maureen Boxer
Molecular Genetics Laboratory, Department of Pathology, Ninewells Hospital and Medical School, Dundee, DD1 9SY, UK
Molecular Genetics Laboratory, Department of Pathology, Ninewells Hospital and Medical School, Dundee DD1 9SY, UKSearch for more papers by this authorCheryl Black
Molecular Genetics Laboratory, Department of Pathology, Ninewells Hospital and Medical School, Dundee, DD1 9SY, UK
Search for more papers by this authorAnne P. Withers
Molecular Genetics Laboratory, Department of Pathology, Ninewells Hospital and Medical School, Dundee, DD1 9SY, UK
Search for more papers by this authorJonathon R. Gray
Institute of Medical Genetics, University of Wales, Cardiff, UK
Search for more papers by this authorAllan B. Bridges
Department of Medicine, Stirling Royal Infirmary, Livilands Road, Stirling, SK8 2AU, UK
Search for more papers by this authorAshley Craig
Department of Biochemistry, University of Dundee, Dundee, DD1 4HN, UK
Search for more papers by this authorDavid U. Baty
Molecular Genetics Laboratory, Department of Pathology, Ninewells Hospital and Medical School, Dundee, DD1 9SY, UK
Search for more papers by this authorCorresponding Author
Dr. Maureen Boxer
Molecular Genetics Laboratory, Department of Pathology, Ninewells Hospital and Medical School, Dundee, DD1 9SY, UK
Molecular Genetics Laboratory, Department of Pathology, Ninewells Hospital and Medical School, Dundee DD1 9SY, UKSearch for more papers by this author
References
- Collod G, Babron MC, Jondeau G, Coulon M, Weissenbach J, Dubourg O, Bourdarias JP, Bonaitipellie C, Junien C, Boileau C (1994) A second locus for Marfan syndrome maps to chromosomer-3p24.2-p25. Nature Genet 8: 264–268.
- Corson GA, Chalberg SC, Dietz HC, Charboneau 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.
- Dietz HC, Pyeritz RE (1995) Mutations on the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Hum Mol Genet 4: 1799–1809.
- 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.
- Gray JR, Bridges AB, Faed MJW, Pringle T, Baines P, Dean J, Boxer M (1994) Ascertainment and severity of Marfan syndrome in a Scottish population. J Med Genet 31: 51–54.
- Hewett DR, Lynch JR, Child A, Sykes BC (1994) A new missense mutation of fibrillin in a patient with Marfan syndrome. J Med Genet 31: 338–339.
- 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.
- Pereira L, D'Alessio M, Ramirez F, Lynch JR, Sykes B, Pangilinan T, Bonadio J (1993) Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome. Hum Mol Genet 2: 961–968.
- Pereira L, Levran O, Ramirez F, Lynch JR, Sykes B, Pyeritz RE, Dietz HC (1994) A molecular approach to the stratification of cardiovascular risk in families with Marfan syndrome. N Engl J Med 331: 148–153.
- Sood S, Eldadah ZA, Krause WL, McIntosh I, Dietz HC (1996) Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. Nature Genet 12: 209–211.
- Ståhl-Hallengren C, Ukkonen T, Kainulainen K, Kristofersson U, Saxne T, Tornqvist K, Peltonen L (1994) An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome. J Clin Invest 94: 709–713.
- Tassabehji M, Newton VE, Leverton K, Turnbull K, Seemanova E, Kunze J, Sperling K, Starchan T, Read AP (1994) PAX3 gene structure and mutations: Close analogies between Waardenburg syndrome and the Splotch mouse. Hum Mol Genet 3: 1069–1074.
