Novel de novo nonsense mutation of FBN1 gene in a patient with Marfan syndrome

Journal of Genetics

Volumn 91, Issue 2, 2012, Pages 233-235

  Song, Young Hwa ^a   Kim, Gu Hwan ^b   Yoo, Han Wook ^b   Kim, June Bum ^c  

^a Konyang University College of Medicine   (South Korea)

^b Asan Medical Center   (South Korea)

^c Seoul Children's Hospital   (South Korea)

Author keywords

de novo mutation; FBN1 gene; Marfan syndrome; nonsense mutation

Indexed keywords

ACTIN BINDING PROTEIN; FIBRILLIN;

ARTICLE; CASE REPORT; CHILD; GENETIC ASSOCIATION; GENETICS; HUMAN; MALE; MARFAN SYNDROME; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE;

BASE SEQUENCE; CHILD; DNA MUTATIONAL ANALYSIS; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MUTATION, MISSENSE; PEDIGREE;

EID: 84866120150     PISSN: 00221333     EISSN: 09737731     Source Type: Journal    
DOI: 10.1007/s12041-012-0165-3     Document Type: Article

References (4)

1. Arbustini E., Grasso M., Ansaldi S., Malattia C., Pilotto A., Porcu E. et al. 2005 Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies. Hum. Mutat. 26, 494.
2. De Paepe A., Devereux R. B., Dietz H. C., Hennekam R. C. and Pyeritz R. E. 1996 Revised diagnostic criteria for the Marfan syndrome. Am. J. Med. Genet. 62, 417-426.
3. Faivre L., Collod-Beroud G., Child A., Callewaert B., Loeys B. L., Binquet C. et al. 2008 Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands. J. Med. Genet. 45, 384-390.
4. Judge D. P. and Dietz H. C. 2005 Marfan's syndrome. Lancet366, 1965-1976.