G.P.144

Stojkovic, Tanya; Richard, P.; Rondeau, Sophie; Jeanpierre, Marc

doi:10.1016/j.nmd.2014.06.174

Cited by 1 publication

(1 citation statement)

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“…The patient was a heterozygous carrier of missense VUS in structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1) gene (c.3596T>C) and SYNE1 gene (c.17140G>A). Other novel mutations in both genes have already been reported in patients with cardiomyopathies [28,36], supporting the relevance of currently reported mutations with the cardiac phenotype in this patient.…”

Section: Cases With Nmd In Present Studysupporting

confidence: 87%

Genetic Modifiers of Hereditary Neuromuscular Disorders and Cardiomyopathy

Bazrafshan

Kushlaf

Kakroo

et al. 2021

Cells

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Novel genetic variants exist in patients with hereditary neuromuscular disorders (NMD), including muscular dystrophy. These patients also develop cardiac manifestations. However, the association between these gene variants and cardiac abnormalities is understudied. To determine genetic modifiers and features of cardiac disease in NMD patients, we have reviewed electronic medical records of 651 patients referred to the Muscular Dystrophy Association Care Center at the University of Cincinnati and characterized the clinical phenotype of 14 patients correlating with their next-generation sequencing data. The data were retrieved from the electronic medical records of the 14 patients included in the current study and comprised neurologic and cardiac phenotype and genetic reports which included comparative genomic hybridization array and NGS. Novel associations were uncovered in the following eight patients diagnosed with Limb-girdle Muscular Dystrophy, Bethlem Myopathy, Necrotizing Myopathy, Charcot-Marie-Tooth Disease, Peripheral Polyneuropathy, and Valosin-containing Protein-related Myopathy. Mutations in COL6A1, COL6A3, SGCA, SYNE1, FKTN, PLEKHG5, ANO5, and SMCHD1 genes were the most common, and the associated cardiac features included bundle branch blocks, ventricular chamber dilation, septal thickening, and increased outflow track gradients. Our observations suggest that features of cardiac disease and modifying gene mutations in patients with NMD require further investigation to better characterize genotype–phenotype relationships.

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Section: Cases With Nmd In Present Studysupporting

confidence: 87%