A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave

Lenk, Uwe; Oexle, Konrad; Voït, Thomas; Ancker, Ulrike; Hellner, Karl-Anton; Speer, Astrid; Hübner, Christoph

doi:10.1093/hmg/5.7.973

Cited by 61 publications

(42 citation statements)

References 22 publications

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“…It is interesting that although this gene region represents only 25% of the entire coding region of the gene in our study there is a cluster of minor changes in patients with MR. These findings support previous screening data 15 as well as reports of isolated cases 11,25,26 that implicate mutations in the distal part of the human dystrophin gene of some DMD patients with MR. This could be the result of disruption of the C-terminal isoforms (Dp140, Dp116 and Dp71) which are mainly expressed in the nervous system and also interact with sarcolemmal proteins.…”

Section: Discussionsupporting

confidence: 91%

“…28 Another approach to clarifying the role of distinct dystrophin domains is to study the effect of specific mutations of the dystrophin gene in relation to the clinical phenotype. 25 The three different minor alterations that were found in exon 66 in three unrelated DMD patients are predicted to lead to premature termination of the protein. Furthermore, the pathogenic role of the detected mutations was supported by haplotype analysis available for two families (probands D165 and D171).…”

Section: Discussionmentioning

confidence: 99%

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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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Section: Discussionsupporting

confidence: 91%

Section: Discussionmentioning

confidence: 99%

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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“…These projections have been reported to be of functional importance in lower vertebrates because they receive feedback input from horizontal cell processes, but their function has not been elucidated in mammalian retinas (Linberg and Fischer 1988). Recently, the first C-terminal missense of dystrophin in a DMD patient raised the absence of b-waves in darkadapted ERG (Lenk et al 1996). The dystrophin C-terminal portion is the dystroglycan binding domain Suzuki et al 1992Suzuki et al ,1994Suzuki et al ,1995 and is present in all dystrophin isoforms.…”

Section: Discussionmentioning

confidence: 99%

β-Dystroglycan Localization in the Photoreceptor and Müller cells in the Rat Retina Revealed by Immunoelectron Microscopy

Ueda

Gohdo

Ohno

1998

J Histochem Cytochem.

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SUMMARY ␤ -Dystroglycan ( ␤ -DG) is a dystrophin-associated glycoprotein that is expressed in skeletal muscle and other tissues. In the retina, dystrophin is present in the outer plexiform layer (OPL), where it is enriched under the photoreceptor cell membrane. In this study we determined the immunocytochemical localization of ␤ -DG at both light and electron microscopic levels. ␤ -DG immunoreactivity was detected at the inner limiting membrane, OPL, and around blood vessels. Immunoelectron microscopy detected ␤ -DG immunoreactive products under the photoreceptor cell membrane, which are the same regions of dystrophin localization. In addition, ␤ -DG was detected under the Müller cell membrane that is attached to the paravitreous or perivascular basement membrane. Our results suggest that ␤ -DG may interact with dystrophin in photoreceptor membranes. However, ␤ -DGrelated interactions between Müller cells and basement membranes appear to be independent of dystrophin and raise the possibility that ␤ -DG interacts with other molecules. We speculate that ␤ -DG plays a role in maintaining the structural relationship between photoreceptor and bipolar cells or between Müller cells and basement membranes.( J Histochem Cytochem 46: [185][186][187][188][189][190][191] 1998 )

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“…Accordingly, point mutations identified in DMD are nonsense mutations (7) except rare DMD cases with missense mutations (9,10).…”

Section: Reading-frame Rulementioning

confidence: 99%

Duchenne and Becker Muscular Dystrophy: From Gene Diagnosis to Molecular Therapy

Matsuo

2002

IUBMB Life

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SummaryDuchenne and Becker muscular dystrophy (DMD/BMD) are X-linked muscular dystrophies. The isolation of the defective gene in DMD/BMD has led to a better understanding of the disease process and has promoted studies regarding the application of molecular therapy. The purpose of this review is to present the progress made in this area of research with particular reference to dystrophin Kobe. Based on the results from the molecular analysis of dystrophin Kobe, we propose a novel molecular therapeutic method for DMD in which antisense oligonucleotides transform DMD into a milder phenotype by inducing exon skipping. In addition, current proposals for the molecular therapy of DMD are discussed.

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A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave

Cited by 61 publications

References 22 publications

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

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

β-Dystroglycan Localization in the Photoreceptor and Müller cells in the Rat Retina Revealed by Immunoelectron Microscopy

Duchenne and Becker Muscular Dystrophy: From Gene Diagnosis to Molecular Therapy

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