Cardiac Phenotypes, Genetics, and Risks in Familial Noncompaction Cardiomyopathy

Waning, Jaap I. van; Çalışkan, Kadir; Michels, Michelle; Schinkel, Arend F. L.; Hirsch, Alexander; Dalinghaus, Michiel; Hoedemaekers, Yvonne M.; Wessels, Marja W.; IJpma, Arne; Hofstra, Robert M.W.; Slegtenhorst, Marjon A. van; Majoor‐Krakauer, Danielle

doi:10.1016/j.jacc.2018.12.085

Cited by 67 publications

(71 citation statements)

References 31 publications

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“…The incidence of CHD in LVNC patients caused by NONO mutations seems to be significantly higher than its incidence in overall LVNC patients (Oechslin and Jenni, 2018;Richard et al, 2018;van Waning et al, 2018van Waning et al, , 2019aKayvanpour et al, 2019). In addition, LVNC is diagnosed early in all patients with NONO mutations: five in the prenatal period (Sun et al, 2020b), four in the neonatal period (Scott et al, 2016;Sewani et al, 2019), two in infancy (Reinstein et al, 2016;Carlston et al, 2019), and one at the age of 4 (Sewani et al, 2019), indicating that LVNC is an early diagnostic clue for MRXS34.…”

Section: Discussionmentioning

confidence: 92%

Case Report: Characterization of a Novel NONO Intronic Mutation in a Fetus With X-Linked Syndromic Mental Retardation-34

et al. 2020

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Background The NONO gene is located on chromosome Xq13.1 and encodes a nuclear protein involved in RNA synthesis, transcriptional regulation, and DNA repair. Hemizygous variants in NONO have been reported to cause mental retardation, X-linked, syndromic 34 (MRXS34) in males. Due to the scarcity of clinical reports, the clinical characteristics and mutation spectrum of NONO-related disorder have not been entirely determined. Methods We reported a fetus with hypoplastic left heart syndrome, performed a comprehensive genotyping examination, including copy-number variation sequencing and whole-exome sequencing, and screened for the genetic abnormality. We also conducted an in vitro mini-gene splicing assay to demonstrate the predicted deleterious effects of an intronic variant of NONO. Results Exome sequencing identified a novel intronic variant (c.154 + 9A > G) in intron 4 of the NONO gene (NM_001145408.1). It was predicted to insert 4 bp of intron 4 into the mature mRNA. Minigene assay revealed that the c.154 + 9A > G variant caused the activation of the intronic cryptic splice site and 4 bp insertion (c.154_155ins GTGT) in mature mRNA. Literature review shows that cardiac phenotype, including left ventricular non-compaction cardiomyopathy and congenital heart disease, are consistent features of MRXS34. Conclusion This study enlarges the mutation spectrum of NONO, further expands hypoplastic left heart syndrome to the phenotype of MRXS34 and points out the importance of intronic sequence analysis and the need for integrative functional studies in the interpretation of sequence variants.

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Section: Discussionmentioning

confidence: 92%

Case Report: Characterization of a Novel NONO Intronic Mutation in a Fetus With X-Linked Syndromic Mental Retardation-34

et al. 2020

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“…Finally, it is worth noting that a significant overlap between the DCM phenotype and other types of cardiomyopathies, such as hypertrophic cardiomyopathy, non-compaction, and arrhythmogenic cardiomyopathy, might be observed. In this direction, a recent study which examined the overlap between non-compaction cardiomyopathy (NCC) with other phenotypes ( 27 ) demonstrated that a significant proportion of the affected patients (59%) and their relatives fulfilled the criteria of DCM diagnosis. In the same population, patients with non-compaction and dilated and hypertrophic cardiomyopathy shared a common genetic substrate to a significant degree.…”

Section: Definition Of Dilated Cardiomyopathy Prevalence and Causesmentioning

confidence: 99%

Multi-Modality Imaging in Dilated Cardiomyopathy: With a Focus on the Role of Cardiac Magnetic Resonance

Mitropoulou

Georgiopoulos

Figliozzi

et al. 2020

Front. Cardiovasc. Med.

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“…И варианты в генах MYBPC3 и TTN были ассоциированы с развитием сердечных событий и имели более плохой прогноз. Также в 2019г этим же коллективом авторов были представлены данные работы, посвященной семейным случаям НМЛЖ [12]. Все пациенты были разделены на 4 типа НМЛЖ: дилатационный (ДТ), гипертрофический (ГТ), изолированный НМ, сочетание ДТ+ГТ.…”

Section: материал и методыunclassified

The combination of left ventricular non-compaction and hypertrophic cardiomyopathy in one family with a pathogenic variant in the MYBPC3 gene (rs397516037)

Myasnikov¹,

Куликова²,

Мешков³

et al. 2020

Russ J Cardiol

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The article presents the results of clinical, instrumental and molecular genetic tests of three generations of a family with inherited cardiomyopathy caused by a new variant in the MYBPC3 gene. A specific feature of this case is the phenotypic heterogeneity of the mutation — a combination of hypertrophic cardiomyopathy and left ventricular non-compaction in family members. Attention is drawn to the various severity of clinical manifestations in relatives of carriers of mutation: from asymptomatic to severe heart failure and acute cerebrovascular accident.

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Cardiac Phenotypes, Genetics, and Risks in Familial Noncompaction Cardiomyopathy

Cited by 67 publications

References 31 publications

Case Report: Characterization of a Novel NONO Intronic Mutation in a Fetus With X-Linked Syndromic Mental Retardation-34

Case Report: Characterization of a Novel NONO Intronic Mutation in a Fetus With X-Linked Syndromic Mental Retardation-34

Multi-Modality Imaging in Dilated Cardiomyopathy: With a Focus on the Role of Cardiac Magnetic Resonance

The combination of left ventricular non-compaction and hypertrophic cardiomyopathy in one family with a pathogenic variant in the MYBPC3 gene (rs397516037)

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