Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial marfan syndrome phenotype

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Black, Cheryl ^a   Withers, Anne P ^a   Gray, Jonathon R ^b   Bridges, Allan B ^c   Craig, Ashley ^d   Baty, David U ^a   Boxer, Maureen ^a  

^a UNIVERSITY OF DUNDEE   (United Kingdom)

^b CARDIFF UNIVERSITY   (United Kingdom)

^c Stirling Royal Infirmary   (United Kingdom)

^d UNIVERSITY OF DUNDEE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN BINDING PROTEIN; ARGININE; CYSTEINE; DNA; FIBRILLIN;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CHEMISTRY; FAMILY HEALTH; FEMALE; GENETICS; HUMAN; MALE; MARFAN SYNDROME; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PHENOTYPE; POINT MUTATION; SINGLE STRAND CONFORMATION POLYMORPHISM; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 15; EXTRACELLULAR MATRIX; FAMILIAL DISEASE; GENE MUTATION; GENETIC TRANSCRIPTION; HUMAN CELL; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARGININE; BASE SEQUENCE; CYSTEINE; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HUMANS; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0031965598     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110164     Document Type: Article

References (12)

1. 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 chromosomer3p24.2-p25. Nature Genet 8:264-268.
2. 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.
3. 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.
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 syn-drome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 352:337-339.
5. Gray JR, Bridges AB, Faed MJW, Pringle T, Baines P, Dean J, Boxer M (1994) Ascertainment and severity of Marfan syndrome in a Scot-tish population. J Med Genet 31:51-54.
6. 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.
7. Nijbroek G, Sood S, Mclntosh I, Francomano CA, Bull E, Pereira L, Ramirez F, Pyeritz RE, Dietz HC (1995) Fifteen novel FBN1 mutations causing Marfan syndrome detected by heterodu-plex analysis of genomic amplicons. Am J Hum Genet 57:8-21
8. 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.
9. Pereira L, Levran O, Ramirez F, Lynch JR, Sykes B, Pyeritz RE, Dietz HC (1994) A molecular approach to the stratification of cardio-vascular risk in families with Marfan syndrome. N Engl J Med 331:148-153.
10. Sood S, Eldadah ZA, Krause WL, Mclntosh I, Dietz HC (1996) Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. Nature Genet 12:209-211.
11. Stahl-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.
12. 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.