Inherited dilated cardiomyopathy in a large Moroccan family caused by LMNA mutation

Adadi, Najlae; Radi, Fatima Zohra; Lahrouchi, Najim; Hara, Loubna; Ratbi, Ilham; Elalaoui, Siham Chafai; Alders, Mariëlle; Zarzur, Jamila; Bezzina, Connie R.; Sefiani, Abdelaziz

doi:10.14744/anatoljcardiol.2018.69639

Cited by 4 publications

(4 citation statements)

References 13 publications

(22 reference statements)

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“…Ours was the first report of a PLN mutation on the African continent and, in a screen of 315 patients comprising DCM, HCM, ACM and peripartum cardiomyopathy (PPCM), the PLN gene appeared to be a rare cause of cardiomyopathy in Africans (44). Finally, the only DCM study to have used NGS on the African continent was carried out in 2018 in a Moroccan family (32) where targeted resequencing was used to screen the DNA of five family members for 50 cardiomyopathy genes. The investigators found a previously reported pathogenic LMNA p.R54C mutation as the cause of disease within this family.…”

Section: Genetics Of Dcmmentioning

confidence: 96%

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Genetics of inherited cardiomyopathies in Africa

Shaboodien

Spracklen

Kamuli

et al. 2020

Cardiovasc Diagn Ther

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With increased globalisation and modernisation, different regions are becoming progressively more interconnected through the movement of people, goods, capital and ideas. The health systems in sub-Saharan Africa (SSA) (Table S1) are consequently facing challenges imposed by a unique quadruple burden of increasing noncommunicable diseases (NCDs), persisting morbidity and mortality from communicable diseases, high maternal and infant mortality, and trauma and interpersonal violence (1-3). Combine these factors with changes in lifestyle, an ageing population and a healthcare environment that is marked by limited resources, short supply of well-equipped screening facilities, late diagnosis, and suboptimal care at primary, secondary, tertiary and quaternary levels, as well as a paucity of national Review Article on Cardiovascular Diseases in Low-and Middle-Income Countries

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Section: Genetics Of Dcmmentioning

confidence: 96%

“…In 20-50% of cases, DCM is inherited in an autosomal dominant manner, and nearly 60 different genes are involved (31). Among them, involvement of the sarcomeric gene, TTN is most prevalent (40%), followed the nuclear lamin gene LMNA (10%) (32)(33)(34).…”

Section: Genetics Of Dcmmentioning

confidence: 99%

Genetics of inherited cardiomyopathies in Africa

Shaboodien

Spracklen

Kamuli

et al. 2020

Cardiovasc Diagn Ther

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“…HCM is typically characterized by abnormal left and/or right ventricular hypertrophy [1]. HCM is commonly known as hereditary cardiomyopathy [2,3], which is estimated that more than 16 genes and 900 mutations are responsible for the occurrence of HCM [4][5][6]. Currently, HCM treatment mainly focuses on gene therapy [7], immune-modulatory therapy [8], and regenerative therapy [9][10][11].…”

Section: Introductionmentioning

confidence: 99%

Immune-Related Genes: Potential Regulators and Drug Therapeutic Targets in Hypertrophic Cardiomyopathy

Liu

Cai

et al. 2021

Journal of Nanomaterials

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Background. Accumulating evidence shows that the innate immune system is a key player in cardiovascular repair and regeneration, but little is known about the role of immune-related genes (IRGs) in hypertrophic cardiomyopathy (HCM). Methods. The differential mRNA expression profiles of HCM samples were downloaded from the Gene Expression Omnibus (GEO) dataset (GSE89714), and the IRG expression profile was obtained from the ImmPort database. The regulatory pathways of IRGs in HCM were screened out through discrepantly expressive genes (DEGs) analysis, enrichment of gene function/pathway analysis, and protein-protein interaction (PPI) network. Besides, hub IRGs in the PPI network were selected for drug prediction. Results. A total of 854 genes were differentially expressed in HCM, of which 88 were IRGs. Functional enrichment analysis revealed that 88 IRGs were mainly involved in the biological processes (BP) of SMAD protein pathway, smooth muscle cell proliferation, protein serine/threonine kinase, and mitogen-activated protein kinase (MAPK) cascade. Cytokine-cytokine receptor interaction, TGFβ signaling pathway, PI3K-Akt signaling pathway, and MAPK signaling pathway were enriched in the pathway enrichment analysis of these 88 IRGs. Furthermore, the PPI regulatory network of IRGs was constructed, and 10 hub IRGs were screened out to construct a regulatory network for HCM. 4 transcription factors (TFs) were the major regulator of 10 hub IRGs. Finally, these 10 hub IRGs were entered into the pharmacogenomics database for prediction, and the relevant drugs were obtained. Conclusions. In this study, 10 hub IRGs were coexpressed with 4 TFs to construct a regulatory network for HCM. Drug prediction of these 10 hub IRGs proposed potential therapeutic agents that could be used in HCM. These results indicate that IRGs are potential regulators and drug therapeutic targets in HCM.

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“…Dilated cardiomyopathy (OMIM 115200) is classified as idiopathic when all detectable causes had been excluded, it accounts approximately for 50% of cases. 6 Pathogenic variants in many genes involved in cardiac functions accounted for a significant proportion of idiopathic dilated cardiomyopathy. 7 It is estimated that approximately 30-50% of dilated cardiomyopathy patients have a known genetic cause.…”

mentioning

confidence: 99%

Molecular analysis of dilated and left ventricular noncompaction cardiomyopathies in Egyptian children

et al. 2021

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Background: Paediatric cardiomyopathy is a progressive, often lethal disorder and the most common cause of heart failure in children. Despite its severe outcomes, the genetic aetiology is still poorly characterised. High-throughput sequencing offers a great opportunity for a better understanding of the genetic causes of cardiomyopathy. Aim: The current study aimed to elucidate the genetic background of cardiomyopathy in Egyptian children. Methods: This hospital-based study involved 68 patients; 58 idiopathic primary dilated cardiomyopathy and 10 left ventricular noncompaction cardiomyopathy. Cardiomyopathy-associated genes were investigated using targeted next-generation sequencing. Results: Consanguinity was positive in 53 and 70% of dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy patients, respectively. Positive family history of cardiomyopathy was present in 28% of dilated cardiomyopathy and 10% of the left ventricular noncompaction cardiomyopathy patients. In 25 patients, 29 rare variants were detected; 2 likely pathogenic variants in TNNI3 and TTN and 27 variants of uncertain significance explaining 2.9% of patients. Conclusions: The low genetic detection rate suggests that novel genes or variants might underlie paediatric cardiomyopathy in Egypt, especially with the high burden of consanguinity. Being the first national and regional report, our study could be a reference for future genetic testing in Egyptian cardiomyopathy children. Genome-wide tests (whole exome/genome sequencing) might be more suitable than the targeted sequencing to investigate the primary cardiomyopathy patients. Molecular characterisation of cardiomyopathies in different ethnicities will allow for global comparative studies that could result in understanding the pathophysiology and heterogeneity of cardiomyopathies.

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Inherited dilated cardiomyopathy in a large Moroccan family caused by LMNA mutation

Cited by 4 publications

References 13 publications

Genetics of inherited cardiomyopathies in Africa

Genetics of inherited cardiomyopathies in Africa

Immune-Related Genes: Potential Regulators and Drug Therapeutic Targets in Hypertrophic Cardiomyopathy

Molecular analysis of dilated and left ventricular noncompaction cardiomyopathies in Egyptian children

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