our experiances in duchene muscular dystrophy
نویسندگان
چکیده
depending on the sensitivity of the method, deletions may be detected at the majority (60-65 %) of duchenne/becker muscular dystrophy (dmd/bmd) cases. duplications may be seen in approximately 5 -10% and the remaining mutations are point mutations, intronic deletions, exonic insersions of repetetive sequences and combinations of all. severity of the disease does not correlate with the size of the deletion in dmd/bmd patients. a small deletion such as exon 44 may result in dmd, while bmd patient may exhibit a deletion which is larger than 50% of the whole gene. many attempts have been made to explain the type of mutation and the clinical expression of the disease. myalgia and muscle cramps are reported in patients with the deletions which were distrıbuted throughout the central and distal domains of dystrophin protein. the effect of mutations on clinical phenotype do not depend on the distrıbution of the deletions and duplications at the gene, however the defect on the tripple reading frame is responsible for the clinical picture in more than 90% of the cases. several studies have also been performed to find out a correlation between the mutation and the clinical symptoms (such as cardiomyopathy and mental retardation, etc.) in dmd/bmd patients but a clear categorization that may help clinical ground could not been made exactly. the samples of 333 dmd/bmd patients and with suspected carriers, 402 samples were tested with multiplex pcr (mpcr) and/or multiplex ligation dependent probe amplification(mlpa) method in our center. with mpcr 22 exons and with mlpa (for the last two years) 79 exons were screened. among 333 patients with the clinical diagnosis of dmd/bmd, 183 cases were detected as having deletions (55%). for the last two years, 130 samples were tested with mlpa which belong to patients and suspected carriers. the number of the patients who tested with mlpa were 61. in 31 cases, deletions were confirmed exactly with mlpa and in the group of patients who do not have deletion, 7 cases exhibited duplications which were not recognised before (7%). thus, 66.5% of the cases were informative. besides, among 69 female who were investigated, 23 mother/sister were detected as carriers. the results of the cases with dmd/bmd will be presented and discussed with an unusual promoter region mutations which were detected in six cases.
منابع مشابه
molecular diagnosis of duchene/ becker muscular dystrophy in iranian patients
duchene and becker muscular dystrophy (dmd and bmd) are x-linked conditions that result from a defect in the dystrophin gene located on xp21. dmd is the most frequent neuromuscular disease in humans (1/3500 male newborns). in approximately 65% of dmd and bmd patients, deletions in the dystrophin gene have been identified as the molecular determinant. population-based variations in frequency and...
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Duchenne muscular dystrophy (BMD) is an inherited X-link disease. The incidence of this muscle-wasting disease is 1:5000 male live births. Mutation in the gene coding for dystrophin is the main cause of BMD. Most cases of this disease succumb to respiratory and cardiac failure in 3rd to 4th decades. The slow progression of BMD and recent achievement of gene therapies make it as an appropriate c...
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how to cite this article: barzegar m, habibi p, bonyady m, topchizadeh v, shiva sh. exon deletion pattern in duchene muscular dystrophy in north west of iran. iran j child neurol. 2015 winter; 9(1): 42-48. abstract objective duchene and becker muscular dystrophy (dmd/ bmd) are x-linked disorders that both are the result of heterogeneous mutations in the dystrophin gene. the frequency and distri...
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1School of Nursing, Johns Hopkins University, Baltimore, MD, USA 2Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA 3Berman Institute of Bioethics, Johns Hopkins University, Baltimore, MD, USA 4Department of Health, Behavior & Society, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD, USA 5Department of Neurology, Johns Hopkins Un...
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عنوان ژورنال:
genetics in the 3rd millenniumجلد ۶، شماره ۳، صفحات ۱۳۹۹-۱۳۹۹
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