Genetic Mosaicism in Calmodulinopathy Article Swipe
Lisa M. Wren
,
Juan Jiménez‐Jáimez
,
Saleh AlGhamdi
,
Jumana Y. Al‐Aama
,
Amnah Bdeir
,
Zuhair N. Al‐Hassnan
,
Jyn Ling Kuan
,
Roger Foo
,
F Potet
,
Christopher N. Johnson
,
Miriam C. Aziz
,
Gemma L. Carvill
,
Juan Pablo Kaski
,
Lia Crotti
,
Francesca Perín
,
Lorenzo Monserrat
,
Paul W. Burridge
,
Peter J. Schwartz
,
Walter Chazin
,
Zahurul A. Bhuiyan
,
Alfred L. George
·
YOU?
·
· 2019
· Open Access
·
· DOI: https://doi.org/10.1161/circgen.119.002581
YOU?
·
· 2019
· Open Access
·
· DOI: https://doi.org/10.1161/circgen.119.002581
Background: CaM (calmodulin) mutations are associated with congenital arrhythmia susceptibility (calmodulinopathy) and are most often de novo. In this report, we sought to broaden the genotype-phenotype spectrum of calmodulinopathies with 2 novel calmodulin mutations and to investigate mosaicism in 2 affected families. Methods: CaM mutations were identified in 4 independent cases by DNA sequencing. Biochemical and electrophysiological studies were performed to determine functional consequences of each mutation. Results: Genetic studies identified 2 novel CaM variants ( CALM3 -E141K in 2 cases; CALM1 -E141V) and one previously reported CaM pathogenic variant ( CALM3 -D130G) among 4 probands with shared clinical features of prolonged QTc interval (range 505–725 ms) and documented ventricular arrhythmia. A fatal outcome occurred for 2 of the cases. The parents of all probands were asymptomatic with normal QTc duration. However, 2 of the families had multiple affected offspring or multiple occurrences of intrauterine fetal demise. The mother from the family with recurrent intrauterine fetal demise exhibited the CALM3 -E141K mutant allele in 25% of next-generation sequencing reads indicating somatic mosaicism, whereas CALM3 -D130G was present in 6% of captured molecules of the paternal DNA sample, also indicating mosaicism. Two novel mutations (E141K and E141V) impaired Ca 2+ binding affinity to the C-domain of CaM. Human-induced pluripotent stem cell-derived cardiomyocytes overexpressing mutant or wild-type CaM showed that both mutants impaired Ca 2+ -dependent inactivation of L-type Ca 2+ channels and prolonged action potential duration. Conclusions: We report 2 families with somatic mosaicism associated with arrhythmogenic calmodulinopathy, and demonstrate dysregulation of L-type Ca 2+ channels by 2 novel CaM mutations affecting the same residue. Parental mosaicism should be suspected in families with unexplained fetal arrhythmia or fetal demise combined with a documented CaM mutation.
Related Topics
Concepts
Proband
Biology
Genetics
Mutation
Allele
Genotype
Phenotype
Mutant
Induced pluripotent stem cell
Somatic cell
Gene
Embryonic stem cell
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1161/circgen.119.002581
- OA Status
- green
- Cited By
- 43
- References
- 35
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2973035775
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W2973035775Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1161/circgen.119.002581Digital Object Identifier
- Title
-
Genetic Mosaicism in CalmodulinopathyWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2019Year of publication
- Publication date
-
2019-09-01Full publication date if available
- Authors
-
Lisa M. Wren, Juan Jiménez‐Jáimez, Saleh AlGhamdi, Jumana Y. Al‐Aama, Amnah Bdeir, Zuhair N. Al‐Hassnan, Jyn Ling Kuan, Roger Foo, F Potet, Christopher N. Johnson, Miriam C. Aziz, Gemma L. Carvill, Juan Pablo Kaski, Lia Crotti, Francesca Perín, Lorenzo Monserrat, Paul W. Burridge, Peter J. Schwartz, Walter Chazin, Zahurul A. Bhuiyan, Alfred L. GeorgeList of authors in order
- Landing page
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https://doi.org/10.1161/circgen.119.002581Publisher landing page
- Open access
-
YesWhether a free full text is available
- OA status
-
greenOpen access status per OpenAlex
- OA URL
-
https://hdl.handle.net/10668/14447Direct OA link when available
- Concepts
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Proband, Biology, Genetics, Mutation, Allele, Genotype, Phenotype, Mutant, Induced pluripotent stem cell, Somatic cell, Gene, Embryonic stem cellTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
43Total citation count in OpenAlex
- Citations by year (recent)
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2025: 5, 2024: 3, 2023: 9, 2022: 10, 2021: 8Per-year citation counts (last 5 years)
- References (count)
-
35Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.calmodulinopathy, | 246 |
| abstract_inverted_index.(calmodulinopathy) | 10 |
| abstract_inverted_index.calmodulinopathies | 28 |
| abstract_inverted_index.genotype-phenotype | 25 |
| abstract_inverted_index.electrophysiological | 56 |
| cited_by_percentile_year.max | 99 |
| cited_by_percentile_year.min | 96 |
| countries_distinct_count | 7 |
| institutions_distinct_count | 21 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/3 |
| sustainable_development_goals[0].score | 0.7200000286102295 |
| sustainable_development_goals[0].display_name | Good health and well-being |
| citation_normalized_percentile.value | 0.95125462 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | True |