Deletion patterns of Duchenne and Becker muscular dystrophies in Greece.

Florentin, Lina; Mavrou, Ariadni; Kekou, Kyriaki; Metaxotou, Catherine

doi:10.1136/jmg.32.1.48

Cited by 24 publications

(15 citation statements)

References 16 publications

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“…In Turkish DMD patients, deletions were found in 52–59% DMD patients [19, 20]. In Greece, deletions were detected by PCR in 63% cases [21]. The lowest rate of deletion mutations in DMD patients has been reported from the Philippines (33% [22]) and Israel (37% [23]).…”

Section: Discussionmentioning

confidence: 99%

Screening 25 Dystrophin Gene Exons for Deletions in Arab Children with Duchenne Muscular Dystrophy

et al. 1998

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Forty-two Arab children with Duchenne muscular dystrophy (DMD) were studied for intragenic deletions in 25 exons of the dystrophin gene using three different multiplex PCR sets each amplifying a total of 9, 9 and 6 different exons, respectively. Exon 22 was amplified individually. Deletions were found in 78, 76 and 12% of DMD patients with each of the three sets, respectively. With all the three sets, the detection rate increased to 86% (36 of 42 patients). Fifty percent of the deleted exons were located in the distal hot spot, 8% in the proximal hot spot while 42% were scattered over both. This study, the first in an Arab population and only the second to use three PCR multiplex sets, documents one of the highest deletion detection rates in DMD.

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Section: Discussionmentioning

confidence: 99%

Screening 25 Dystrophin Gene Exons for Deletions in Arab Children with Duchenne Muscular Dystrophy

et al. 1998

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“…There is, however, a marked difference, since we report a low percentage of recombination between STR44 and STR50, which is a "hot spot" of deletions for our DMD/BMD patients. However, as we have previously reported (Florentin et al 1995), the distribution of deletions in this region is different in our sample and the major breakpoint "hot spot" observed in Greek DMD/BMD patients is in intron 50. Therefore, the differences observed in the current study could be attributed to the role played by the "local DNA environment" in the creation of deletions (Krawczak and Cooper 1991;Cooper and Krawczak 1991 ) and in homologous and nonhomologous recombination (Ruley and Fried 1983;Nicholls et al 1987;Yen et al 1990).…”

Section: Discussionmentioning

confidence: 39%

“…All patients were screened with cDNA probes and/or multiplex polymerase chain reaction (PCR) (Abbs et al 1991) for 18 exons of the DMD gene; deletions were detected in 65% of them (Florentin et al 1995). Families were chosen randomly when they were referred to the Genetics Unit; they came from all parts of Greece.…”

Section: Methodsmentioning

confidence: 99%

Mapping dystrophin gene recombinants in Greek DMD/BMD families: low recombination frequencies in the STR region

et al. 1995

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A systematic study of 42 Greek DMD/BMD families using 14 polymorphic markers that span the dystrophin gene was performed in order to assess the position and frequency of recombinants in the Greek population and to test whether "hot spots" of recombination and deletions coincide when exclusively studying DMD/BMD families. We report a low percentage of recombination between markers STR44 and STR50; otherwise, the distribution of recombination events in other parts of the gene is largely in agreement with previously published data on Centre d'Etude du Polymorphisme Humaine families. We therefore propose that recombination frequencies and the correlation between recombination and deletion "hot spots" should be evaluated on DMD/BMD families exclusively.

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“…Previous studies in the Greek population have also described differences in deletion breakpoints and in recombination events in the STR 44-50 region of the dystrophin gene. 32,33 Moreover, the incidence of the polymorphism C to T at position + 15 of intron 66, in Greek population, is found with a frequency of 15% which is greater than the 5% frequency reported by Lenk et al 15 The three frameshift products that were revealed by cDNA analysis in patient D286 demonstrate the usage of the alternative splicing mechanism. This property of the carboxy terminus of the gene is also evident in the case of BMD patient D320 in whom the DNA defect on exon 74 activates exon skipping and finally restores the frameshift mutation.…”

Section: Discussionmentioning

confidence: 82%

Screening for minor changes in the distal part of the human dystrophin gene in Greek DMD/BMD patients

et al. 1999

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The distal part of the human dystrophin gene is characterised by particular features and seems to play an important functional role. Additionally in recent years several data have implicated minor mutations in this gene region in some patients with mental retardation (MR). In order to screen for pathogenic mutations at the distal part of the human dystrophin gene we have used single-strand conformation analysis of products amplified by polymerase chain reaction (PCR-SSCA) in 35 unrelated male Greek DMD/BMD patients with no detectable deletions. Seven patients also had severe mental retardation. Direct sequencing of samples demonstrating a shift of SSCA mobility revealed six different and pathogenic minor changes, five in DMD and one in a BMD patient. Four of the mutations were found in DMD patients with severe MR. Three of these mutations were localised in exon 66, which presents an interesting similarity with part of the 3' end of the genome of eastern equine encephalomyelitis virus (EEEV). The present data from Greek DMD/BMD patients give further information about the phenotypic effects consequent on mutations in exons at the distal part of the human dystrophin gene.

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Deletion patterns of Duchenne and Becker muscular dystrophies in Greece.

Cited by 24 publications

References 16 publications

Screening 25 Dystrophin Gene Exons for Deletions in Arab Children with Duchenne Muscular Dystrophy

Screening 25 Dystrophin Gene Exons for Deletions in Arab Children with Duchenne Muscular Dystrophy

Mapping dystrophin gene recombinants in Greek DMD/BMD families: low recombination frequencies in the STR region

Screening for minor changes in the distal part of the human dystrophin gene in Greek DMD/BMD patients

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