Duchenne or Becker muscular dystrophy: A clinical, genetic and immunohistochemical study in China

Wang, Qian; Yang, Xiaofeng; Yang, Yan; Song, Nan; Lin, Chen; Jin, Chen

doi:10.4103/0028-3886.91354

Cited by 7 publications

(3 citation statements)

References 26 publications

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“…As previous studies have suggested, chronic persistent CK elevation indicates the possibility of neuromuscular disease (11). Wang et al (12) reported that among a group of 201 female relatives, 97 of the 98 first-degree relatives with high levels of CK were DMD or BMD carriers, while 31 of the remaining 103 subjects exhibiting normal CK levels were diagnosed as carriers. Therefore, the possibility that female relatives with normal levels of CK could be carriers cannot be excluded.…”

Section: Discussionmentioning

confidence: 99%

Clinical and genetic characteristics of female dystrophinopathy carriers

et al. 2019

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The present study aimed to determine the genetic status of manifesting carriers (MCs) of Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) and asymptomatic carriers with a family history of DMD/BMD, and identify potential simple and reliable methods for screening dystrophinopathy carriers. Clinical data from probable carriers and MCs were collected and analyzed. MCs underwent multiplex ligation-dependent probe amplification (MLPA) for dystrophin gene exons combined with muscle disease panel test based on a next-generation sequencing (NGS) platform. In addition, the status of probable carriers was determined by MLPA or Sanger sequencing, according to the mutations of probands. A total of 154 female were enrolled, among which 78 cases were found to be carriers, including 4 MCs and 74 asymptomatic female carriers. The 4 MCs exhibited duplication mutations. Among the 74 asymptomatic carriers, 41.89% harbored deletion mutations, including 2 cases with suspected germline mosaicism and no mutation in the dystrophin gene, while 44.59% harbored point mutations in exons and only 10 cases (13.51%) carried duplication mutations. The area under the receiver operating characteristic (ROC) curve of creatine kinase (CK) was 0.822, with a sensitivity of 65.38% and specificity of 92.1%. In addition, DMD was positively correlated with the CK, alanine transaminase and aspartate transaminase levels of the carriers. MLPA for exons of the dystrophin gene, along with NGS and Sanger sequencing, was effective for the diagnosis of MCs and for determining the status of probable carriers. The ROC curve analysis also demonstrated that CK level was an excellent predictor for distinguishing DMD/BMD carriers.

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Section: Discussionmentioning

confidence: 99%

Clinical and genetic characteristics of female dystrophinopathy carriers

et al. 2019

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“…Detection of female carriers is important to avoid the birth of affected children ( 4 ). CK is currently the most common used non-invasive biomarker in detecting carriers, but since CK is not always reliable and only 45.0–76.0% of female carriers have increased levels of CK, the search for new biomarkers in detecting DMD/BMD carriers is especially important ( 5 – 7 , 22 ). At present, there are also some studies on miRNAs as biomarkers of DMD, but few are about DMD carriers.…”

Section: Discussionmentioning

confidence: 99%

“…It is estimated that ~2.5–40.0% of female carriers will have manifestations of muscular dystrophy (MD) such as muscle weakness or heart disease later on in their life, but these people rarely show symptoms during childhood ( 2 – 4 ). In addition, multiple studies have shown that ~45–76% of female carriers have increased serum creatine kinase (CK) levels, while others are normal ( 5 – 7 ). For those asymptomatic carriers with normal CK levels, their affected male relatives are usually the first indication of their so-called “gene carrier” status ( 8 ).…”

Section: Introductionmentioning

confidence: 99%

Serum MyomiRs as Biomarkers for Female Carriers of Duchenne/Becker Muscular Dystrophy

Zhang

Zhong

et al. 2020

Front. Neurol.

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Background: Duchenne/Becker muscular dystrophy (DMD/BMD) is an X-linked recessive lethal neuromuscular disease. MicroRNAs expressed in striated muscle, myomiRs, have been proposed as its potential biomarkers. Serum creatine kinase (CK) is commonly used as a biomarker in clinical practice, but it is not reliable. The aim of this study was to assess whether serum levels of myomiRs has diagnostic value for detection of female DMD/BMD carriers with normal or elevated CK. Methods: Thirty four female carriers and 33 age-matched healthy female controls were enrolled. Peripheral blood samples were collected and serum miRNAs were extracted for measurement of miR-1, miR-133a, miR-133b, miR-206, miR-208a, miR-208b, and miR-499 by quantitative real-time polymerase chain reaction. Results: MiR-1, miR-133a, miR-133b, miR-206, miR-208a, miR-208b, and miR-499 were upregulated in all female carriers in comparison to healthy controls. MiR-1 (Spearman's rho = +0.406, p = 0.017) was correlated with CK in the female carrier group. Receiver operating characteristic curve analysis of all seven myomiRs showed that the area under the curve (AUC) for miR-499, miR-133b, miR-1, miR-208b, and miR-133a exceeded 70.0%, and for miR-206 and miR-208a exceeded 60.0%. MiR-133b and miR-499 were significantly increased in all female carriers, even those with normal CK. AUC for the combination of all seven miRNAs was 87.2%. CK (OR 0.406, 95% CI 0.000-0.001, p < 0.0001) and miR-499 (OR 0.323, 95% CI 0.023-0.106, p = 0.003) were considered to be independent predictors for female carriers presence in the multivariable regression analysis model. Conclusions: MiR-133b and miR-499 are potentially useful biomarkers for female carriers with DMD/BMD (including those with normal CK). The combination of all seven serum miRNAs and their respective combinations with CK have better diagnostic value for female carriers than either CK or any separate miRNA.

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Cardiac arrhythmias in patients with neuromuscular disorders

2013

Essential Cardiac Electrophysiology

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Duchenne or Becker muscular dystrophy: A clinical, genetic and immunohistochemical study in China

Abstract: This study may be important to enable comparisons of mutation type and the most appropriate analytical approach for samples from different geographical areas and ethnicities.

Cited by 7 publications

References 26 publications

Clinical and genetic characteristics of female dystrophinopathy carriers

Clinical and genetic characteristics of female dystrophinopathy carriers

Serum MyomiRs as Biomarkers for Female Carriers of Duchenne/Becker Muscular Dystrophy

Cardiac arrhythmias in patients with neuromuscular disorders

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