Early Death of 2 Siblings Related to Mutations in LMOD2, a Recently Discovered Cause of Neonatal Dilated Cardiomyopathy

We report a family with 2 neonatal deaths related to dilated cardiomyopathy (DCM) and compound heterozygous loss-of-function variants (c.1243_1244del, p.Leu415Valfs*108 and c.1537C > T, p.Arg513*) in Leiomodin 2 (LMOD2), a recently documented cause of early DCM. The phenotype in mice and humans c...

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Autores principales: Greenway, Steven C., Fruitman, Deborah, Ferrier, Raechel, Huculak, Cathleen, Marcadier, Julien, Sergi, Consolato, Bernier, Francois P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8636227/
https://www.ncbi.nlm.nih.gov/pubmed/34888509
http://dx.doi.org/10.1016/j.cjco.2021.07.017
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author Greenway, Steven C.
Fruitman, Deborah
Ferrier, Raechel
Huculak, Cathleen
Marcadier, Julien
Sergi, Consolato
Bernier, Francois P.
author_facet Greenway, Steven C.
Fruitman, Deborah
Ferrier, Raechel
Huculak, Cathleen
Marcadier, Julien
Sergi, Consolato
Bernier, Francois P.
author_sort Greenway, Steven C.
collection PubMed
description We report a family with 2 neonatal deaths related to dilated cardiomyopathy (DCM) and compound heterozygous loss-of-function variants (c.1243_1244del, p.Leu415Valfs*108 and c.1537C > T, p.Arg513*) in Leiomodin 2 (LMOD2), a recently documented cause of early DCM. The phenotype in mice and humans consists of early, severe cardiac dilation and dysfunction related to decreased functional LMOD2, which results in abnormal actin filaments and abnormal myocardial contractility. Our cases confirm mutations in LMOD2 as a cause of DCM in humans and highlight the rapid changes occurring in cardiac genetics and the importance of reviewing previously negative genetic test results in the context of emerging literature.
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spelling pubmed-86362272021-12-08 Early Death of 2 Siblings Related to Mutations in LMOD2, a Recently Discovered Cause of Neonatal Dilated Cardiomyopathy Greenway, Steven C. Fruitman, Deborah Ferrier, Raechel Huculak, Cathleen Marcadier, Julien Sergi, Consolato Bernier, Francois P. CJC Open Case Report We report a family with 2 neonatal deaths related to dilated cardiomyopathy (DCM) and compound heterozygous loss-of-function variants (c.1243_1244del, p.Leu415Valfs*108 and c.1537C > T, p.Arg513*) in Leiomodin 2 (LMOD2), a recently documented cause of early DCM. The phenotype in mice and humans consists of early, severe cardiac dilation and dysfunction related to decreased functional LMOD2, which results in abnormal actin filaments and abnormal myocardial contractility. Our cases confirm mutations in LMOD2 as a cause of DCM in humans and highlight the rapid changes occurring in cardiac genetics and the importance of reviewing previously negative genetic test results in the context of emerging literature. Elsevier 2021-08-01 /pmc/articles/PMC8636227/ /pubmed/34888509 http://dx.doi.org/10.1016/j.cjco.2021.07.017 Text en © 2021 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Greenway, Steven C.
Fruitman, Deborah
Ferrier, Raechel
Huculak, Cathleen
Marcadier, Julien
Sergi, Consolato
Bernier, Francois P.
Early Death of 2 Siblings Related to Mutations in LMOD2, a Recently Discovered Cause of Neonatal Dilated Cardiomyopathy
title Early Death of 2 Siblings Related to Mutations in LMOD2, a Recently Discovered Cause of Neonatal Dilated Cardiomyopathy
title_full Early Death of 2 Siblings Related to Mutations in LMOD2, a Recently Discovered Cause of Neonatal Dilated Cardiomyopathy
title_fullStr Early Death of 2 Siblings Related to Mutations in LMOD2, a Recently Discovered Cause of Neonatal Dilated Cardiomyopathy
title_full_unstemmed Early Death of 2 Siblings Related to Mutations in LMOD2, a Recently Discovered Cause of Neonatal Dilated Cardiomyopathy
title_short Early Death of 2 Siblings Related to Mutations in LMOD2, a Recently Discovered Cause of Neonatal Dilated Cardiomyopathy
title_sort early death of 2 siblings related to mutations in lmod2, a recently discovered cause of neonatal dilated cardiomyopathy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8636227/
https://www.ncbi.nlm.nih.gov/pubmed/34888509
http://dx.doi.org/10.1016/j.cjco.2021.07.017
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