TY - CHAP
T1 - Recurrent and founder mutations in the Netherlands
T2 - Mutation p.K217del in troponin T2, causing dilated cardiomyopathy
AU - Otten, E.
AU - Lekanne Dit Deprez, R. H.
AU - Weiss, M. M.
AU - Van Slegtenhorst, M.
AU - Joosten, M.
AU - Van Der Smagt, J. J.
AU - De Jonge, N.
AU - Kerstjens-Frederikse, W. S.
AU - Roofthooft, M. T.R.
AU - Balk, A. H.M.M.
AU - Van Den Berg, M. P.
AU - Ruiter, J. S.
AU - Van Tintelen, J. P.
N1 - Publisher Copyright:
© 2014 Bohn Stafleu van Loghum, part of Springer Media, the Netherlands. All rights reserved.
PY - 2014/11/1
Y1 - 2014/11/1
N2 - Background About 30% of dilated cardiomyopathy (DCM) cases are familial. Mutations are mostly found in the genes encoding lamin A/C, beta-myosin heavy chain and the sarcomeric protein cardiac troponin-T (TNNT2). Mutations in TNNT2 are reported in approximately 3% of DCM patients. The overall phenotype caused by TNNT2 mutations is thought to be a fully penetrant, severe disease. This also seems to be true for a recurrent deletion in the TNNT2 gene; p.K217del (also known as p.K210del). Methods We compared the phenotype of all Dutch patients identified as carrying the TNNT2 p.K217del mutation with those described in the literature. All index patients underwent cardiological evaluation. Family screening was done in all described families. Results Six DCM patients carrying the TNNT2 p.K217del mutation were identified from four Dutch families. Mean age of disease manifestation was 33 years. Heart transplantation was required in three of them at ages 12, 18 and 19 years. These outcomes are comparable with those described in the literature. Conclusion Carriers of the TNNT2 p.K217del mutation in our Dutch families, as well as in families described in the literature before, generally show a severe, early-onset form of DCM. (Neth Heart J 2010;18:478-85.).
AB - Background About 30% of dilated cardiomyopathy (DCM) cases are familial. Mutations are mostly found in the genes encoding lamin A/C, beta-myosin heavy chain and the sarcomeric protein cardiac troponin-T (TNNT2). Mutations in TNNT2 are reported in approximately 3% of DCM patients. The overall phenotype caused by TNNT2 mutations is thought to be a fully penetrant, severe disease. This also seems to be true for a recurrent deletion in the TNNT2 gene; p.K217del (also known as p.K210del). Methods We compared the phenotype of all Dutch patients identified as carrying the TNNT2 p.K217del mutation with those described in the literature. All index patients underwent cardiological evaluation. Family screening was done in all described families. Results Six DCM patients carrying the TNNT2 p.K217del mutation were identified from four Dutch families. Mean age of disease manifestation was 33 years. Heart transplantation was required in three of them at ages 12, 18 and 19 years. These outcomes are comparable with those described in the literature. Conclusion Carriers of the TNNT2 p.K217del mutation in our Dutch families, as well as in families described in the literature before, generally show a severe, early-onset form of DCM. (Neth Heart J 2010;18:478-85.).
U2 - 10.1007/978-90-368-0705-0_8
DO - 10.1007/978-90-368-0705-0_8
M3 - Chapter
AN - SCOPUS:84931463475
SN - 9036807042
SN - 9789036807043
SP - 51
EP - 57
BT - Founder Mutations in Inherited Cardiac Diseases in the Netherlands
PB - Bohn Stafleu Van Loghum bv
ER -