Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.
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(CSRP3 Trp4Arg)
You are viewing an old version of this page that was saved on November 13, 2012 at 3:31pm by Madeleine Ball.
Short summary
Impact
Insufficiently evaluated pathogenic
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Inheritance pattern
unknown
Summary of published research, and additional commentary
Knöll R, Hoshijima M, Hoffman HM, Person V, Lorenzen-Schmidt I, Bang ML, Hayashi T, Shiga N, Yasukawa H, Schaper W, McKenna W, Yokoyama M, Schork NJ, Omens JH, McCulloch AD, Kimura A, Gregorio CC, Poller W, Schaper J, Schultheiss HP, Chien KR. The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. Cell. 2002 Dec 27;111(7):943-55. PubMed PMID: 12507422.
Seen in 10 out of 526 DCM cases with European ethnic origin, and not seen in 320 age-matched European controls. The authors report this as “P < 0.01 by exact Fisher test”, but we calculate it to be p = 0.016 using a two-tailed Fisher’s Exact test.
Added in this revision:
Geier C, Gehmlich K, Ehler E, Hassfeld S, Perrot A, Hayess K, Cardim N, Wenzel K, Erdmann B, Krackhardt F, Posch MG, Osterziel KJ, Bublak A, Nägele H, Scheffold T, Dietz R, Chien KR, Spuler S, Fürst DO, Nürnberg P, Ozcelik C. Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. Hum Mol Genet. 2008 Sep 15;17(18):2753-65. Epub 2008 May 27. Erratum in: Hum Mol Genet. 2008 Nov 1;17(21):3436. Osterziel, Karl J [added]. PubMed PMID: 18505755.