Lamin A/C Missense Mutation R216C Pinpoints Overlapping Features Between Brugada Syndrome and Laminopathies

Lamin A/C Missense Mutation R216C Pinpoints Overlapping Features Between Brugada Syndrome and... Circulation: Genomic and Precision Medicine CLINICAL LETTER Lamin A/C Missense Mutation R216C Pinpoints Overlapping Features Between Brugada Syndrome and Laminopathies Annarita Armaroli, MD, PhD; Cristina Balla, MD, PhD; Cecilia Trabanelli, BS, PhD; Rita Selvatici, BS, PhD; Alessandro Brieda, MD; Elisabetta Sette, MD; Matteo Bertini, MD; Donato Mele, MD; Mauro Biffi, MD; Gianluca Calogero Campo, MD; Roberto Ferrari, MD, PhD; Alessandra Ferlini, MD, PhD; Francesca Gualandi , MD, PhD 31-year-old man experienced at-rest cardiac arrest. genetic analysis was performed by next generation After successful resuscitation, the baseline ECG sequencing using PED MASTR Plus assay comprising A demonstrated sinus rhythm with concave ST seg- 52 cardiac electrical disorders related genes, SCN5A ment elevation in right precordial leads (V1–V3) followed included (www.agilent.com). by a negative and symmetrical T-wave. Neither coro- The c.646C T variation in exon 4 of Lamin A/C nary artery disease nor electrolytes’ imbalances were (p.R216C) was identified. The minor allele frequency in detected. In the following days, ECG showed a sponta- gnomAD is 0.000007080 (https://gnomad.broadinsti- neous type 1 Brugada ECG pattern (Figure [A1]), more tute.org/). MLPA analysis of SCN5A was negative. evident with right precordial leads in II and III intercostal The nonconservative amino acid substitution p.R216C spaces. Transthoracic http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Circulation: Cardiovascular Genetics Wolters Kluwer Health

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Publisher
Wolters Kluwer Health
Copyright
© 2020 American Heart Association, Inc.
ISSN
1942-325X
eISSN
1942-3268
DOI
10.1161/CIRCGEN.119.002751
Publisher site
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Abstract

Circulation: Genomic and Precision Medicine CLINICAL LETTER Lamin A/C Missense Mutation R216C Pinpoints Overlapping Features Between Brugada Syndrome and Laminopathies Annarita Armaroli, MD, PhD; Cristina Balla, MD, PhD; Cecilia Trabanelli, BS, PhD; Rita Selvatici, BS, PhD; Alessandro Brieda, MD; Elisabetta Sette, MD; Matteo Bertini, MD; Donato Mele, MD; Mauro Biffi, MD; Gianluca Calogero Campo, MD; Roberto Ferrari, MD, PhD; Alessandra Ferlini, MD, PhD; Francesca Gualandi , MD, PhD 31-year-old man experienced at-rest cardiac arrest. genetic analysis was performed by next generation After successful resuscitation, the baseline ECG sequencing using PED MASTR Plus assay comprising A demonstrated sinus rhythm with concave ST seg- 52 cardiac electrical disorders related genes, SCN5A ment elevation in right precordial leads (V1–V3) followed included (www.agilent.com). by a negative and symmetrical T-wave. Neither coro- The c.646C T variation in exon 4 of Lamin A/C nary artery disease nor electrolytes’ imbalances were (p.R216C) was identified. The minor allele frequency in detected. In the following days, ECG showed a sponta- gnomAD is 0.000007080 (https://gnomad.broadinsti- neous type 1 Brugada ECG pattern (Figure [A1]), more tute.org/). MLPA analysis of SCN5A was negative. evident with right precordial leads in II and III intercostal The nonconservative amino acid substitution p.R216C spaces. Transthoracic

Journal

Circulation: Cardiovascular GeneticsWolters Kluwer Health

Published: Apr 1, 169

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