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. 2019 Dec 27;8(2):e1049. doi: 10.1002/mgg3.1049

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© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.

This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.

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(a) Segregation of the PDLIM5 frameshift variant (p.Leu64Glyfs*15) in a dilated cardiomyopathy (DCM) family with also a truncating TTN variant (p.Thr32477Asnfs*). The index patient (II:3; arrow) has DCM and carries both mutations, just like his cousin (III:1). His niece (III:2) also carries both mutations, but only has left ventricular dilation without a decreased ejection fraction. Both her children had no phenotype at cardiac screening but were only tested for the TTN variant. The other cousin (III:4) is known with DCM but did not consent for genetic analysis. (b) Whole genome sequencing revealed a homozygous deletion in PDLIM5 in a newborn with congenital heart disease (II:1). Both parents were heterozygous for this variant. Echocardiography of the mother revealed no structural abnormalities