Please use this identifier to cite or link to this item: https://doi.org/10.1016/j.ppedcard.2016.01.003
Title: Titin truncating mutations: A rare cause of dilated cardiomyopathy in the young
Authors: Fatkin D.
Lam L.
Herman D.S.
Benson C.C.
Felkin L.E.
Barton P.J.R.
Walsh R.
Candan S.
Ware J.S.
Roberts A.M.
Chung W.K.
Smoot L.
Bornaun H.
Keogh A.M.
Macdonald P.S.
Hayward C.S.
Seidman J.G.
Roberts A.E.
Cook S.A. 
Seidman C.E.
Keywords: Dilated cardiomyopathy
Genetics
Mutations
Titin
Issue Date: 2016
Publisher: Elsevier Ireland Ltd
Citation: Fatkin D., Lam L., Herman D.S., Benson C.C., Felkin L.E., Barton P.J.R., Walsh R., Candan S., Ware J.S., Roberts A.M., Chung W.K., Smoot L., Bornaun H., Keogh A.M., Macdonald P.S., Hayward C.S., Seidman J.G., Roberts A.E., Cook S.A., Seidman C.E. (2016). Titin truncating mutations: A rare cause of dilated cardiomyopathy in the young. Progress in Pediatric Cardiology 40 : 41-45. ScholarBank@NUS Repository. https://doi.org/10.1016/j.ppedcard.2016.01.003
Abstract: Truncating mutations in the TTN gene are the most common genetic cause of dilated cardiomyopathy in adults but their role in young patients is unknown. We studied 82 young dilated cardiomyopathy subjects and found that the prevalence of truncating TTN mutations in adolescents was similar to adults, but surprisingly few truncating TTN mutations were identified in affected children, including one confirmed de novo variant. In several cases, truncating TTN mutations in children with dilated cardiomyopathy had evidence of additional clinical or genetic risk factors. These findings have implications for genetic testing and suggest that single truncating TTN mutations are insufficient alone to cause pediatric-onset dilated cardiomyopathy. ? 2016.
Source Title: Progress in Pediatric Cardiology
URI: http://scholarbank.nus.edu.sg/handle/10635/150845
ISSN: 10589813
DOI: 10.1016/j.ppedcard.2016.01.003
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