LMNA-Related Muscular Dystrophy with Clinical Intrafamilial Variability

Cotta, Ana; Paim, Júlia Filardi; Carvalho, Elmano; Valicek, Jaquelin; Cunha, A; Navarro, Monica M.; Vargas, Antônio Pedro; Lima, Maria Isabel; Almeida, Camila de; Takata, Reinaldo Issao; Vainzof, Mariz

doi:10.1007/s12031-019-01390-0

Cited by 4 publications

(3 citation statements)

References 11 publications

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“…It is widely accepted that early diagnosis of LMNA-related muscular diseases is key for appropriate clinical management (Charniot et al, 2003), particularly in L-CMD (Ben Yaou et al, 2021). In addition, clinical familial history and close genotype-phenotype correlation can help clarify the role of genetic variants in onset as well as progression of disease (Cotta et al, 2019;Ben Yaou et al, 2021). Therefore, existence of additional rare genetic modifiers has been suggested as an explanation for clinical phenotype difference observed in families diagnosed with any type of laminopathy (Muntoni et al, 2006;Boudreau et al, 2012;Roncarati et al, 2013) despite no comprehensive genotype-phenotype study.…”

Section: Discussionmentioning

confidence: 99%

LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation

et al. 2023

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Background: Laminopathies are caused by rare alterations in LMNA, leading to a wide clinical spectrum. Though muscular dystrophy begins at early ages, disease progression is different in each patient. We investigated variability in laminopathy phenotypes by performing a targeted genetic analysis of patients diagnosed with LMNA-related muscular dystrophy to identify rare variants in alternative genes, thereby explaining phenotypic differences.Methods: We analyzed 105 genes associated with muscular diseases by targeted sequencing in 26 pediatric patients of different countries, diagnosed with any LMNA-related muscular dystrophy. Family members were also clinically assessed and genetically analyzed.Results: All patients carried a pathogenic rare variant in LMNA. Clinical diagnoses included Emery-Dreifuss muscular dystrophy (EDMD, 13 patients), LMNA-related congenital muscular dystrophy (L-CMD, 11 patients), and limb-girdle muscular dystrophy 1B (LGMD1B, 2 patients). In 9 patients, 10 additional rare genetic variants were identified in 8 genes other than LMNA. Genotype-phenotype correlation showed additional deleterious rare variants in five of the nine patients (3 L-CMD and 2 EDMD) with severe phenotypes.Conclusion: Analysis f known genes related to muscular diseases in close correlation with personalized clinical assessments may help identify additional rare variants of LMNA potentially associated with early onset or most severe disease progression.

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Section: Discussionmentioning

confidence: 99%

LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation

et al. 2023

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“…His genetic panel identified two lesions, one in the LMNA gene c.1129C>T (p.Arg377Cys) and another in the SNTA1 gene c.287G>C (p.Gly96Ala). LMNA is a gene that encodes for structural proteins of the nuclear lamina, lamin A and lamin C, and is one of the most common genes associated with dilated cardiomyopathies 7 . Mutations in the LMNA gene have broad presentations, including congenital Emery‐Dreifuss muscular dystrophy and increased risk of malignant ventricular arrhythmias and advanced cardiomyopathies 8,9 .…”

Section: Case Presentationmentioning

confidence: 99%

The proof is in the appendage: A case report of a fenestrated membrane overlying the left atrial appendage

et al. 2020

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A 35‐year‐old man with history of recurrent arrhythmias presented for pulmonary vein isolation. He underwent pre‐procedural screening for thromboembolism risk with transesophageal echocardiogram. He had an incidental finding of a rare fenestrated membrane overlying his left atrial appendage. Additional workup throughout his clinical course revealed genetic mutations in the LMNA and SNTA1 genes. There have been no previous reported genetic mutations reported in cases with LAA membranes.

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“…Fonte: Autores.4. Discussão(Achmad et al, 2017;Binder et al, 2020;Blagova et al, 2016;Borch et al, 2022;Brisset et al, 2019;Calame et al, 2021;Carboni et al, 2008;Carboni et al, 2012;Chen et al, 2017;Chiba et al, 2020;Cotta et al, 2019;Coutance et al, 2012;Dai et al, 2020;Dell'Amore et al, 2007;Deymeer et al, 1993;Di Blasi et al, 2000; Douglas et al, 2022; Dumitru et al, 2021;Duras et al, 2022;Ellis et al, 1999;Ellis et al, 2000;Felice et al, 2000;Fidzianska et al, 2010;Finsterer et al, 2015;Fujimoto et al, 1999;Fujita et al, 2005;Ghosh & Milone, 2014; Giuca et al, 2020;Golzio & Chiribiri, 2007;Gossios et al, 2013; Hausmanowa-Petrusewic et al, 2015;Higuchi et al, 2005;Hoeltzenbein et al, 1999;Homma et al, 2018;Hong et al, 2005;Huang et al, 2020; Ichkawa et al, 1997;Ishikawa et al, 2011;Iskandar et al, 2022;Jimenez-Escrig et al, 2012;Kalin et al, 2019; Karst et al, 2009; Kichuk et al, 2002; Köbel et al, 2018; Ki et al, 2022;Kim et al, 2008;Kovalchuk et al, 2021; Lassuthová et al, 2009;Lee et al, 2020;…”

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Nova mutação no gene EMD em uma família brasileira com diagnóstico de distrofia muscular de Emery-Dreifuss: Dois relatos de caso e revisão da literatura

Macêdo,

Medeiros

2023

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Introdução A distrofia muscular de Emery-Dreifuss é uma doença genética rara e corresponde a quarta principal causa de distrofia muscular no mundo. Ela pode ser causada por mutações em diversos genes, dentre eles o EMD, levando a um defeito na produção da proteína emerina e se caracteriza clinicamente pela tríade clássica de fraqueza muscular, contraturas articulares e cardiopatia. Objetivo Descrever dois casos com diagnóstico de distrofia muscular de Emery-Dreifuss decorrentes de uma nova mutação no gene EMD. Metodologia Descreveu-se dois relatos de caso com a nova mutação comparando-os com 148 casos da literatura após uma revisão narrativa. Resultado Apesar da história natural da doença ser semelhante ao quadro clássico da distrofia muscular de Emery-Dreifuss, percebeu-se maior presença de sintomas atípicos do que aqueles já comumente descritos na literatura, sobretudo acometimento facial. Conclusão A identificação de uma nova variante na mutação do gene EMD permite o diagnóstico mais preciso da distrofia muscular de Emery-Dreifuss, além de possibilitar, ao longo do acompanhamento, a identificação de espectros diferentes de comprometimento sistêmico relacionado a doença.

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LMNA-Related Muscular Dystrophy with Clinical Intrafamilial Variability

Cited by 4 publications

References 11 publications

LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation

LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation

The proof is in the appendage: A case report of a fenestrated membrane overlying the left atrial appendage

Nova mutação no gene EMD em uma família brasileira com diagnóstico de distrofia muscular de Emery-Dreifuss: Dois relatos de caso e revisão da literatura

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