A new deletion in 5′-end of dystrophin gene removing M and P promoters and dystrophin muscle enhancers

Cau, Milena; Boccone, Loredana; Mateddu, Anna; Addis, Maria; Serrenti, Marianna; Chessa, Roberta; Marrosu, Gianni; Loudianos, Georgios; Melis, Maria Paola

doi:10.1016/j.gene.2012.09.037

Cited by 1 publication

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“…Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive hereditary diseases caused by mutations in the DMD gene (OMIM * 300377). Nonsense or frame-shift mutations of the DMD gene lead to the generation of prematurely truncated proteins, which result in DMD (Cau et al, 2012). The motor development of DMD patients is generally normal at birth or early infant.…”

Section: Introductionmentioning

confidence: 99%

Novel Intronic Mutations Introduce Pseudoexons in DMD That Cause Muscular Dystrophy in Patients

et al. 2021

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Background: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are two subtypes of muscular dystrophy diseases caused by pathogenic mutations in the DMD gene. Until now, more than 4,600 disease-causing mutations in DMD have been reported. However, only 33 mutations were deep intronic, cases with this type of mutations were limited.Methods: In this study, we used a combination of complementary DNA (cDNA) and target DNA sequencing analysis in addition to conventional whole-exome sequencing (WES).Results: Three novel hemizygous mutations IVS11 + 17811C > G (c.1331 + 17811C > G), IVS21 + 3252A > G (c.2803 + 3252A > G) and IVS40 + 362A > G (c.5739 + 362A > G) were identified in DMD patients, while a reported hemizygous mutation IVS62-285A > G (c.9225-285A > G) was found in the BMD patient. These DMD mutations lead to pseudoexon insertions, causing the generation of truncated and dysfunctional dystrophin.Conclusion: This study defines three novel and one reported intronic mutations, which can result in DMD/BMD. We also emphasize the need to combine WES and cDNA-based methods to detect the variant in the very large DMD gene in which the mutational spectrum is complex.

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Section: Introductionmentioning

confidence: 99%