The novel B-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy
Brodehl A, Gaertner-Rommel A, Klauke B, Grewe SA, Schirmer I, Peterschroeder A, Faber L, Vorgerd M, Gummert J, Anselmetti D, Schulz U, et al. (2017)
HUMAN MUTATION 38(8): 947-952.
Zeitschriftenaufsatz
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Autor*in
Brodehl, Andreas;
Gaertner-Rommel, Anna;
Klauke, Baerbel;
Grewe, Simon Andre;
Schirmer, Ilona;
Peterschroeder, Andreas;
Faber, Lothar;
Vorgerd, Matthias;
Gummert, Jan;
Anselmetti, DarioUniBi 
;
Schulz, Uwe;
Paluszkiewicz, Lech
Alle
;
Schulz, Uwe;
Paluszkiewicz, Lech
Alle
Abstract / Bemerkung
Restrictive cardiomyopathy (RCM) is a rare heart disease characterized by diastolic dysfunction and atrial enlargement. The genetic etiology of RCM is not completely known. We identified by a next-generation sequencing panel the novel CRYAB missense mutation c.326A>G, p.D109G in a small family with RCM in combination with skeletal myopathy with an early onset of the disease. CRYAB encodes B-crystallin, a member of the small heat shock protein family, which is highly expressed in cardiac and skeletal muscle. In addition to in silico prediction analysis, our structural analysis of explanted myocardial tissue of a mutation carrier as well as in vitro cell transfection experiments revealed abnormal protein aggregation of mutant B-crystallin and desmin, supporting the deleterious effect of this novel mutation. In conclusion, CRYAB appears to be a novel RCM gene, which might have relevance for the molecular diagnosis and the genetic counseling of further affected families in the future.
Stichworte
B-crystallin;
hypertrophic cardiomyopathy;
intermediate filaments;
restrictive cardiomyopathy;
small heat shock proteins
Erscheinungsjahr
2017
Zeitschriftentitel
HUMAN MUTATION
Band
38
Ausgabe
8
Seite(n)
947-952
ISSN
1059-7794
eISSN
1098-1004
Page URI
https://pub.uni-bielefeld.de/record/2913150
Zitieren
Brodehl A, Gaertner-Rommel A, Klauke B, et al. The novel B-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy. HUMAN MUTATION. 2017;38(8):947-952.
Brodehl, A., Gaertner-Rommel, A., Klauke, B., Grewe, S. A., Schirmer, I., Peterschroeder, A., Faber, L., et al. (2017). The novel B-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy. HUMAN MUTATION, 38(8), 947-952. doi:10.1002/humu.23248
Brodehl, Andreas, Gaertner-Rommel, Anna, Klauke, Baerbel, Grewe, Simon Andre, Schirmer, Ilona, Peterschroeder, Andreas, Faber, Lothar, et al. 2017. “The novel B-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy”. HUMAN MUTATION 38 (8): 947-952.
Brodehl, A., Gaertner-Rommel, A., Klauke, B., Grewe, S. A., Schirmer, I., Peterschroeder, A., Faber, L., Vorgerd, M., Gummert, J., Anselmetti, D., et al. (2017). The novel B-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy. HUMAN MUTATION 38, 947-952.
Brodehl, A., et al., 2017. The novel B-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy. HUMAN MUTATION, 38(8), p 947-952.
A. Brodehl, et al., “The novel B-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy”, HUMAN MUTATION, vol. 38, 2017, pp. 947-952.
Brodehl, A., Gaertner-Rommel, A., Klauke, B., Grewe, S.A., Schirmer, I., Peterschroeder, A., Faber, L., Vorgerd, M., Gummert, J., Anselmetti, D., Schulz, U., Paluszkiewicz, L., Milting, H.: The novel B-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy. HUMAN MUTATION. 38, 947-952 (2017).
Brodehl, Andreas, Gaertner-Rommel, Anna, Klauke, Baerbel, Grewe, Simon Andre, Schirmer, Ilona, Peterschroeder, Andreas, Faber, Lothar, Vorgerd, Matthias, Gummert, Jan, Anselmetti, Dario, Schulz, Uwe, Paluszkiewicz, Lech, and Milting, Hendrik. “The novel B-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy”. HUMAN MUTATION 38.8 (2017): 947-952.
6 Zitationen in Europe PMC
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