scholarly journals Prenatal Diagnosis of Dystrophin Gene Mutations using Multiplex Ligation Dependent Probe Amplification (MLPA) for Duchene Muscular Dystrophy

2018 ◽  
Vol 12 (3) ◽  
Author(s):  
Zahra Hasan
Keyword(s):  
Prenatal Diagnosis ◽  
Muscular Dystrophy ◽  
Gene Mutations ◽  
Dystrophin Gene ◽  
Duchene Muscular Dystrophy ◽  
Dependent Probe

scholarly journals Unexpected DMD Gene Mutations Detected by CMA and CNV-seq in amniotic Fluid and Aborted Fetus Samples

2021 ◽  
Author(s):  
Qiuhua Wu ◽  
Lihui Yang ◽  
Qiujie Jin ◽  
Rui Wang ◽  
Wen Zhai ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Muscular Dystrophy ◽  
Amniotic Fluid ◽  
Spontaneous Abortion ◽  
Gene Mutations ◽  
Dystrophin Gene ◽  
Becker Muscular Dystrophy ◽  
Hereditary Diseases ◽  
Muscle Dysfunction ◽  
Dmd Gene

Abstract Background: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are common X chromosome-linked recessive hereditary diseases. The mechanism is that the exon mutations of anti-myatrophy protein gene (Dystrophin gene) and lead to muscle dysfunction. Prenatal diagnosis can prevent the birth of children with defects and have good clinical significance. Methods: CMA and CNV-seq were used to detect the amniotic fluid after amniocentesis,. CNV-seq was used to detect spontaneous abortion tissue. The DMD gene mutations were found in 6 amniotic fluid samples and one spontaneous abortion sample. DMD gene mutations were confirmed by MLPA and new DMD mutations were found.Results: CMA found DMD mutations :1.Xp21.1, 75.5kb del (E52-53); 2.Xp21.2, 334.92kb dup (E61-79); 3.Xp21.2, 292.25kb dup (E58-74); 4.Xp21.1, 374.20 kb dup (E45-51). CNV-seq found DMD mutations: 5.X p21.2, E64-79 dup; 6.X p21.1, E1-7dup; 7.Xp21.1, E 44-52 del. Conclusions: 4 fetuses harboring DMD gene mutations were found by CMA, 2 fetuses and 1 induced abortion carrying DMD gene mutations was detected by CNV-seq. CMA/CNV-seq jointed with MLPA test can provide more comprehensive evidence for prenatal diagnosis.

Prenatal diagnosis of Duchenne and Becker muscular dystrophy by multiplex ligation-dependent probe amplification

2009 ◽  
Vol 31 (6) ◽  
pp. 600-604
Author(s):  
Qian WANG ◽  
Chun-Lian JIN ◽  
Chang-Kun LIN ◽  
Wan-Ting CUI ◽  
Hong-Wei MA ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Muscular Dystrophy ◽  
Becker Muscular Dystrophy ◽  
Dependent Probe

scholarly journals Autophagy in the heart is enhanced and independent of disease progression in mus musculus dystrophinopathy models

2019 ◽  
Vol 8 ◽  
pp. 204800401987958
Author(s):  
HR Spaulding ◽  
C Ballmann ◽  
JC Quindry ◽  
MB Hudson ◽  
JT Selsby
Keyword(s):  
Skeletal Muscle ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Disease Progression ◽  
Gene Mutations ◽  
Dystrophin Gene ◽  
Mdx Mice ◽  
Dystrophin Deficiency ◽  
Muscle Wasting Disease ◽  
Dystrophin Protein

Background Duchenne muscular dystrophy is a muscle wasting disease caused by dystrophin gene mutations resulting in dysfunctional dystrophin protein. Autophagy, a proteolytic process, is impaired in dystrophic skeletal muscle though little is known about the effect of dystrophin deficiency on autophagy in cardiac muscle. We hypothesized that with disease progression autophagy would become increasingly dysfunctional based upon indirect autophagic markers. Methods Markers of autophagy were measured by western blot in 7-week-old and 17-month-old control (C57) and dystrophic (mdx) hearts. Results Counter to our hypothesis, markers of autophagy were similar between groups. Given these surprising results, two independent experiments were conducted using 14-month-old mdx mice or 10-month-old mdx/Utrn± mice, a more severe model of Duchenne muscular dystrophy. Data from these animals suggest increased autophagosome degradation. Conclusion Together these data suggest that autophagy is not impaired in the dystrophic myocardium as it is in dystrophic skeletal muscle and that disease progression and related injury is independent of autophagic dysfunction.

scholarly journals Cardiac Involvement in Dystrophin-Deficient Females: Current Understanding and Implications for the Treatment of Dystrophinopathies

Genes ◽  
2020 ◽  
Vol 11 (7) ◽  
pp. 765 ◽  
Author(s):  
Kenji Rowel Q. Lim ◽  
Narin Sheri ◽  
Quynh Nguyen ◽  
Toshifumi Yokota
Keyword(s):  
Muscular Dystrophy ◽  
Molecular Mechanisms ◽  
Cardiac Involvement ◽  
Gene Mutations ◽  
Dystrophin Gene ◽  
Becker Muscular Dystrophy ◽  
Female Carrier ◽  
Daily Life Activities ◽  
Cardiac Manifestations ◽  
Available Information

Duchenne muscular dystrophy (DMD) is a fatal X-linked recessive condition caused primarily by out-of-frame mutations in the dystrophin gene. In males, DMD presents with progressive body-wide muscle deterioration, culminating in death as a result of cardiac or respiratory failure. A milder form of DMD exists, called Becker muscular dystrophy (BMD), which is typically caused by in-frame dystrophin gene mutations. It should be emphasized that DMD and BMD are not exclusive to males, as some female dystrophin mutation carriers do present with similar symptoms, generally at reduced levels of severity. Cardiac involvement in particular is a pressing concern among manifesting females, as it may develop into serious heart failure or could predispose them to certain risks during pregnancy or daily life activities. It is known that about 8% of carriers present with dilated cardiomyopathy, though it may vary from 0% to 16.7%, depending on if the carrier is classified as having DMD or BMD. Understanding the genetic and molecular mechanisms underlying cardiac manifestations in dystrophin-deficient females is therefore of critical importance. In this article, we review available information from the literature on this subject, as well as discuss the implications of female carrier studies on the development of therapies aiming to increase dystrophin levels in the heart.

Characteristics of Dystrophin Gene Mutations Among Chinese Patients as Revealed by Multiplex Ligation–Dependent Probe Amplification

2009 ◽  
Vol 13 (1) ◽  
pp. 23-30 ◽  
Author(s):  
Qian Wang ◽  
Jesse Li-Ling ◽  
Changkun Lin ◽  
Yingyu Wu ◽  
Kailai Sun ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Dystrophin Gene ◽  
Chinese Patients ◽  
Dependent Probe

scholarly journals Haplotype-Based Noninvasive Prenatal Diagnosis for Duchenne Muscular Dystrophy: A pilot study in South China

2019 ◽  
Author(s):  
Min Chen ◽  
Chao Chen ◽  
Yingting Li ◽  
Yuan Yuan ◽  
Zhengfei Lai ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Maternal Plasma ◽  
Targeted Sequencing ◽  
Plasma Dna ◽  
Noninvasive Prenatal Diagnosis ◽  
Integration Analysis ◽  
Dependent Probe ◽  
Singleton Pregnancies

AbstractObjectiveTo explore the accuracy and feasibility of noninvasive prenatal diagnosis (NIPD) for Duchenne Muscular Dystrophy (DMD) based on the haplotype approach.MethodsWe recruited singleton pregnancies at-risk of DMD at 12-25 weeks of gestation from 17 families who all had a proband children affected by DMD. We have identified the pathogenic mutations in probands and their mothers by multiplex ligation-dependent probe amplification (MLPA). To construct parental haplotypes, we performed captured sequencing on genomic DNA from parents and probands. The integration analysis of parental haplotypes and targeted sequencing results of maternal plasma DNA were used to infer the fetal haplotype and genotypes in DMD gene. Fetal DMD genotypes were further confirmed by invasive prenatal diagnosis.ResultsWe have successfully performed the haplotype-based NIPD in all recruited families. Ten fetuses were identified as normal, including four female and six male fetuses. Four female fetuses were carriers and the other three male fetuses were affected by DMD with exons 49-52 deletion, exons 8-37 deletion and c.628G > T mutation, respectively. The results of NIPD were consistent with those of invasive diagnosis.ConclusionHaplotype-based NIPD for DMD by targeted sequencing is promising and has potential for clinical application.

scholarly journals The Role of Dystrophin Gene Mutations in Neuropsychological Domains of DMD Boys: A Longitudinal Study

2019 ◽  
Vol 26 (3-4) ◽  
pp. 42-49
Author(s):  
Rahul Tyagi ◽  
Vivek Podder ◽  
Harshita Arvind ◽  
Manju Mohanty ◽  
Akshay Anand
Keyword(s):  
Muscular Dystrophy ◽  
Pediatric Population ◽  
Neuropsychological Functioning ◽  
Gene Mutations ◽  
Dystrophin Gene ◽  
Long Term Memory ◽  
Ethical Guidelines ◽  
Neuropsychological Rehabilitation ◽  
Neuropsychological Impairments

Background: Duchenne Muscular Dystrophy (DMD) is a fatal muscular dystrophy of pediatric population coupled with other secondary comorbidities including mental retardation and neuropsychological impairments. Mutation location in the dystrophin gene, have been associated with neuropsychological functioning in DMD. Purpose: We investigated temporal changes in the neuropsychological functioning of DMD subjects, hitherto understudied. Methods: Subjects with suspected DMD were enrolled according to the ethical guidelines. Genetic confirmation by Multiplex Ligation Dependent Probe Amplification was carried out to identify pathogenic deletion or duplication in dystrophin gene. Intellectual and neuropsychological functioning was assessed by using standardized batteries. Investigated neuropsychological domains included visual, verbal and working memory, selective and sustained attention, executive functioning, verbal fluency, and visuo-constructive and visuo-spatial abilities. The assessments were carried out at baseline and followed for one time point in 30 cases. Result: The follow-up assessment revealed that neuropsychological functioning did not worsen with time. Improvements were seen in block designing task ( p = 0.050), serial positioning primacy effect ( p = 0.002), Stroop incongruent task ( p = 0.006), visual long-term memory ( p = 0.003) and attention ( p = 0.001). DMD cases with mutation location affecting short dystrophin isoform (Dp140) also showed improvement in these domains. Conclusion: No temporal alterations were found in DMD subjects, though improvements in few domains were observed. Neuropsychological rehabilitation may be useful in improving the quality of life in DMD subjects.

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