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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

CVD1  -  cardiac valvular dysplasia-1

Homo sapiens

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Disease relevance of CVD1

  • In this article, we describe the genetic analysis of a large family in which XMVD is associated with a mild hemophilia A [1].
  • A rarely observed form of myxoid heart disease, X-linked myxomatous valvular dystrophy (XMVD), is inherited in an X-linked fashion and is characterized by multivalvular myxomatous degeneration; however, the histopathological features of the mitral valve do not differ significantly from the severe form of IMVP [1].
 

High impact information on CVD1

  • Haplotype analysis of this chromosomal region allowed the definition of an 8-cM minimal interval containing the gene for XMVD, between DXS8011 and Xqter [1].
  • The CVD1 clone was more sensitive to chloroquine than was the parental line, in vitro [2].
  • DNA sequence analysis of the gene encoding the circumsporozoite (CS) protein revealed differences between CVD1 and the published NF54 CS gene [2].
  • We have investigated the genetic causes of X-linked myxomatous valvular dystrophy (XMVD) previously mapped to chromosome Xq28 [3].
  • Two other missense mutations (G288R and V711D) and a 1944-bp genomic deletion coding for exons 16 to 19 in the FLNA gene were identified in 3 additional, smaller, unrelated families affected by valvular dystrophy, which demonstrates the responsibility of FLNA as a cause of XMVD [3].
 

Analytical, diagnostic and therapeutic context of CVD1

  • The culture-adapted NF54 isolate of Plasmodium falciparum was subjected in vitro to three sequential limiting dilution titrations and the resulting clone was given the designation CVD1 [2].

References

  1. Mapping of X-linked myxomatous valvular dystrophy to chromosome Xq28. Kyndt, F., Schott, J.J., Trochu, J.N., Baranger, F., Herbert, O., Scott, V., Fressinaud, E., David, A., Moisan, J.P., Bouhour, J.B., Le Marec, H., Bénichou, B. Am. J. Hum. Genet. (1998) [Pubmed]
  2. Plasmodium falciparum: in vitro characterization and human infectivity of a cloned line. Davis, J.R., Cortese, J.F., Herrington, D.A., Murphy, J.R., Clyde, D.F., Thomas, A.W., Baqar, S., Cochran, M.A., Thanassi, J., Levine, M.M. Exp. Parasitol. (1992) [Pubmed]
  3. Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy. Kyndt, F., Gueffet, J.P., Probst, V., Jaafar, P., Legendre, A., Le Bouffant, F., Toquet, C., Roy, E., McGregor, L., Lynch, S.A., Newbury-Ecob, R., Tran, V., Young, I., Trochu, J.N., Le Marec, H., Schott, J.J. Circulation (2007) [Pubmed]
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