16 results on '"Beugnet C"'
Search Results
2. Update in genetics of corneal dystrophies
- Author
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Bourges, J.L., primary, Burin des Roziers, C., additional, Beugnet, C., additional, Nedelec, B., additional, Hoffart, L., additional, Delbosc, B., additional, Muraine, M., additional, Hamel, C., additional, Lacombe, D., additional, Moriniere, V., additional, Fourrage, C., additional, Robert, M., additional, Bremond-Gignac, D., additional, and Valleix, S., additional
- Published
- 2017
- Full Text
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3. Genetic anomalies in congenital cataract
- Author
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Bremond-Gignac, D., primary, Burin des Roziers, C., additional, Beugnet, C., additional, Fourrage, C., additional, Moriniere, V., additional, Robert, M., additional, and Valleix, S., additional
- Published
- 2017
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4. Control Modules for Scintillation Counters in the SPS Experimental Areas
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Baribaud, Guy, Beugnet, C, Cojan, A, Ferri, G, Fullerton, J, Manarin, A, and Spanggaard, J
- Subjects
Accelerators and Storage Rings - Abstract
The hardware used in the SPS Experimental Areas to control the beam instrumentation electronics and mechanics of the particle detectors is based on CAMAC and NIM modules. The maintenance of this hardware now presents very serious problems. The modules used to operate the Experimental Areas are numerous and older than 20 years so many of them cannot be repaired any more and CAMAC is no longer well supported by industry. The fast evolution of technology and a better understanding of the detectors allow a new equipment-oriented approach, which is more favourable for maintenance purposes and presents fewer data handling problems. VME and IP Modules were selected as standard components to implement the new electronics to control and read out the particle detectors. The first application implemented in this way concerns the instrumentation for the Scintillation Counters (formerly referred to as triggers). The fundamental options and the design features will be presented.
- Published
- 2001
5. P2.43 Revisiting X-linked Emery-Dreifuss muscular dystrophy. New insights into an old story
- Author
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Ben Yaou, R., Beugnet, C., Chikhaoui, K., Hamroun, D., Kaplan, J.C., Béroud, C., Bonne, G., Leturcq, F., and F. French EDMD network
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- 2011
- Full Text
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6. Introduction of knowledge bases in patient's data management system: Role of the user interface
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Chambrin, M., Ravaux, P., Jaborska, A., Beugnet, C., Lestavel, P., Chopin, C., and Boniface, M.
- Abstract
Abstract: As the number of signals and data to be handled grows in intensive care unit, it is necessary to design more powerful computing systems that integrate and summarize all this information. The manual input of data as e.g. clinical signs and drug prescription and the synthetic representation of these data requires an ever more sophisticated user interface. The introduction of knowledge bases in the data management allows to conceive contextual interfaces. The objective of this paper is to show the importance of the design of the user interface, in the daily use of clinical information system. Then we describe a methodology that uses the man-machine interaction to capture the clinician knowledge during the clinical practice. The different steps are the audit of the user's actions, the elaboration of statistic models allowing the definition of new knowledge, and the validation that is performed before complete integration. A part of this knowledge can be used to improve the user interface. Finally, we describe the implementation of these concepts on a UNIX platform using OSF/MOTIF graphical interface.
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- 1996
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7. Foveal Hypoplasia Grading in 95 Cases of Congenital Aniridia: Correlation to Phenotype and PAX6 Genotype.
- Author
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Daruich A, Robert MP, Leroy C, DE Vergnes N, Beugnet C, Malan V, Valleix S, and Bremond-Gignac D
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- Eye Proteins genetics, Genotype, Humans, Mutation, Pedigree, Phenotype, Retrospective Studies, Aniridia diagnosis, Aniridia genetics, PAX6 Transcription Factor genetics, Vision Disorders genetics
- Abstract
Purpose: To correlate the degree of foveal hypoplasia in congenital aniridia with visual acuity, iris phenotype, and PAX6 mutations., Design: Retrospective case series., Methods: Ninety-five consecutive patients with high-quality spectral-domain optical coherence tomography records and available genotype were included in a single referral center. Iris hypoplasia was classified as complete, presence of iris root or remnants, and mild atypical aniridia. Spectral-domain optical coherence tomography images were assessed to classify foveal hypoplasia as grade 1 to 4 and to determine mean thicknesses for retinal layers. For statistical analysis 1 eye for each patient was used and 1 member of the same family has been included (n = 76 eyes)., Results: Most eyes (n= 158/169, 93.5%) showed variable degree of foveal hypoplasia. PAX6-positive patients presented higher degree of foveal hypoplasia than patients negative for PAX6 (P < .0001). PAX6 deletions, PAX6 variants subjected to nonsense-mediated decay and C-terminal extension variants were mostly associated with grade 3 or 4 foveal hypoplasia. Deletions restricted to the 3' flanking regulatory regions of PAX6 were associated with grade 1 or 2 foveal hypoplasia (P < .0001). Best-corrected visual acuity was higher and foveal outer retinal layers were thicker in patients with deletions in the 3' regulatory region of PAX6 (P = .001 and P < .0001). Patients with missense mutations presented with variable degree of foveal hypoplasia. The degree of foveal hypoplasia was most frequently correlated with the severity of iris defects, with 95% of eyes with complete aniridia presenting grade 3 or 4 foveal hypoplasia (P = .005). However, among eyes with mild iris phenotype, 70% (n=9/13) showed severe foveal hypoplasia., Conclusions: All types of PAX6 variants, even those associated with mild iris defects, may be at risk for severe foveal hypoplasia with poor visual prognosis, except for deletions restricted to the 3' regulatory PAX6 regions., (Copyright © 2021 The Author(s). Published by Elsevier Inc. All rights reserved.)
- Published
- 2022
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8. New clinical forms of hereditary apoA-I amyloidosis entail both glomerular and retinal amyloidosis.
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Colombat M, Aldigier JC, Rothschild PR, Javaugue V, Desport E, Frouget T, Goujon JM, Rioux-Leclercq N, Quellard N, Rerolle JP, Paraf F, Beugnet C, Tiple A, Durrbach A, Samuel D, Brézin A, Bridoux F, and Valleix S
- Subjects
- Adult, Apolipoprotein A-I genetics, Humans, Male, Retina, Amyloidosis diagnosis, Amyloidosis genetics, Amyloidosis, Familial genetics, Kidney Diseases diagnosis, Kidney Diseases genetics
- Abstract
Apolipoprotein A1 amyloidosis (ApoAI) results from specific mutations in the APOA1 gene causing abnormal accumulation of amyloid fibrils in diverse tissues. The kidney is a prominent target tissue in ApoAI amyloidosis with a remarkable selectivity for the renal medulla. Here, we investigated six French families with ApoAI Glu34Lys, p.His179Profs∗47, and a novel p.Thr185Alafs∗41 variant revealing unprecedented clinical association of a glomerular with a retinal disease. Comprehensive clinicopathological, molecular and proteomics studies of numerous affected tissues ensured the correlation between clinical manifestations, including novel unrecognized phenotypes, and apoA-I amyloid deposition. These ophthalmic manifestations stemmed from apoA-I amyloid deposition, highlighting that the retina is a previously unrecognized tissue affected by ApoAI amyloidosis. Our study provides the first molecular evidence that a significant fraction of ApoAI amyloidosis cases with no family history result from spontaneous neomutations rather than variable disease penetrance. Finally, successful hepatorenal transplantation resulted in a life- and vision-saving measure for a 32-year-old man with a hitherto unreported severe ApoAI amyloidosis caused by the very rare Glu34Lys variant. Our findings reveal new modes of occurrence and expand the clinical spectrum of ApoAI amyloidosis. The awareness of glomerular and ocular manifestations in ApoAI amyloidosis should enable earlier diagnosis and avoid misdiagnosis with other forms of renal amyloidosis. Thus, documented apoA-I amyloid deposition in the retina offers new biological information about this disease and may change organ transplantation practice to reduce retinal damage in patients with ApoAI amyloidosis., (Published by Elsevier Inc.)
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- 2020
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9. The contributions of central and peripheral vision to scene-gist recognition with a 180° visual field.
- Author
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Loschky LC, Szaffarczyk S, Beugnet C, Young ME, and Boucart M
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- Adult, Female, Humans, Male, Visual Field Tests, Young Adult, Pattern Recognition, Visual physiology, Recognition, Psychology physiology, Visual Fields physiology, Visual Perception physiology
- Abstract
We investigated the relative contributions of central versus peripheral vision in scene-gist recognition with panoramic 180° scenes. Experiment 1 used the window/scotoma paradigm of Larson and Loschky (2009). We replicated their findings that peripheral vision was more important for rapid scene categorization, while central vision was more efficient, but those effects were greatly magnified. For example, in comparing our critical radius (which produced equivalent performance with mutually exclusive central and peripheral image regions) to that of Larson and Loschky, our critical radius of 10° had a ratio of central to peripheral image area that was 10 times smaller. Importantly, we found different functional relationships between the radius of centrally versus peripherally presented imagery (or the proportion of centrally versus peripherally presented image area) and scene-categorization sensitivity. For central vision, stimulus discriminability was an inverse function of image radius, while for peripheral vision the relationship was essentially linear. In Experiment 2, we tested the photographic-bias hypothesis that the greater efficiency of central vision for rapid scene categorization was due to more diagnostic information in the center of photographs. We factorially compared the effects of the eccentricity from which imagery was sampled versus the eccentricity at which imagery was presented. The presentation eccentricity effect was roughly 3 times greater than the sampling eccentricity effect, showing that the central-vision efficiency advantage was primarily due to the greater sensitivity of central vision. We discuss our results in terms of the eccentricity-dependent neurophysiology of vision and discuss implications for computationally modeling rapid scene categorization.
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- 2019
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10. Intraplatelet Vascular Endothelial Growth Factor and Platelet-Derived Growth Factor: New Biomarkers in Carcinoembryonic Antigen-Negative Colorectal Cancer?
- Author
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Chater C, Bauters A, Beugnet C, M'Ba L, Rogosnitzky M, and Zerbib P
- Abstract
Background/aim: Colorectal cancer (CRC) is associated with high incidence and mortality rates. Carcinoembryonic antigen (CEA), a prognostic biomarker for recurrent CRC following curative resection, suffers from low sensitivity, especially in early-stage screening. Intraplatelet angiogenesis regulators (IPAR), such as vascular endothelial growth factor (VEGF) and platelet-derived growth factor (PDGF), have been identified as important regulators of tumor growth in CRC. The aim of this study was to confirm the higher preoperative level of IPAR (VEGF and PDGF) in CRC patients compared to controls and to measure IPAR in CEA-negative CRC patients., Methods: The data and blood of 30 CRC patients and 30 presumably healthy controls were prospectively analyzed and compared., Results: We confirmed elevated preoperative intraplatelet VEGF and PDGF levels in CRC patients compared to controls. Importantly, IPAR were significantly elevated even in CEA-negative CRC patients., Conclusion: Elevated preoperative intraplatelet VEGF and PDGF levels in CRC patients suggest new possibilities for postoperative monitoring in CRC patients, especially when CEA is negative.
- Published
- 2018
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11. VLITL is a major cross-β-sheet signal for fibrinogen Aα-chain frameshift variants.
- Author
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Garnier C, Briki F, Nedelec B, Le Pogamp P, Dogan A, Rioux-Leclercq N, Goude R, Beugnet C, Martin L, Delpech M, Bridoux F, Grateau G, Doucet J, Derreumaux P, and Valleix S
- Subjects
- Amino Acid Sequence, Amyloid genetics, Amyloidosis, Familial pathology, Humans, Kidney pathology, Protein Conformation, beta-Strand, Amino Acid Motifs physiology, Amyloidosis, Familial genetics, Fibrinogen genetics, Frameshift Mutation
- Abstract
The first case of hereditary fibrinogen Aα-chain amyloidosis was recognized >20 years ago, but disease mechanisms still remain unknown. Here we report detailed clinical and proteomics studies of a French kindred with a novel amyloidogenic fibrinogen Aα-chain frameshift variant, Phe521Leufs, causing a severe familial form of renal amyloidosis. Next, we focused our investigations to elucidate the molecular basis that render this Aα-chain variant amyloidogenic. We show that a 49-mer peptide derived from the C-terminal part of the Phe521Leufs chain is deposited as fibrils in the patient's kidneys, establishing that only a small portion of Phe521Leufs directly contributes to amyloid formation in vivo. In silico analysis indicated that this 49-mer Aα-chain peptide contained a motif (VLITL), with a high intrinsic propensity for β-aggregation at residues 44 to 48 of human renal fibrils. To experimentally verify the amyloid propensity of VLITL, we generated synthetic Phe521Leufs-derived peptides and compared their capacity for fibril formation in vitro with that of their VLITL-deleted counterparts. We show that VLITL forms typical amyloid fibrils in vitro and is a major signal for cross-β-sheet self-association of the 49-mer Phe521Leufs peptide identified in vivo, whereas its absence abrogates fibril formation. This study provides compelling evidence that VLITL confers amyloidogenic properties to Aα-chain frameshift variants, yielding a previously unknown molecular basis for the pathogenesis of Aα-chain amyloidosis., (© 2017 by The American Society of Hematology.)
- Published
- 2017
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12. Vitreous amyloidosis with autonomic neuropathy of the digestive tract associated with a novel transthyretin p.Gly87Arg variant in a Bangladeshi patient: a case report.
- Author
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Terrier B, Colombat M, Beugnet C, Quéant A, London J, Daudin JB, Le Jeunne C, Mouthon L, Monnet D, Cauquil C, Lacroix C, Adams D, Brézin A, and Valleix S
- Subjects
- Amyloid Neuropathies, Familial genetics, Amyloid Neuropathies, Familial physiopathology, Autonomic Nervous System Diseases genetics, Autonomic Nervous System Diseases physiopathology, DNA Mutational Analysis, Disease Progression, Female, Gastrointestinal Diseases genetics, Gastrointestinal Diseases physiopathology, Humans, Middle Aged, Phenotype, Tomography, Optical Coherence, Vitreous Body, Amyloid Neuropathies, Familial diagnosis, Autonomic Nervous System Diseases diagnosis, Gastrointestinal Diseases diagnosis, Visual Acuity physiology
- Abstract
Background: Hereditary transthyretin amyloidosis is an autosomal dominant inherited disorder, first described in families with sensorimotor and autonomic neuropathy. Since its first description, more than 120 amyloidogenic transthyretin mutations have been reported with various geographic distributions and associated with a wide range of phenotypes involving the peripheral nerve, the heart, the gastrointestinal tract, the eyes, the central nervous system, or the kidneys. In some cases of transthyretin amyloidosis, the first clinical manifestation is vitreous opacity., Case Presentation: A 46-year-old Bangladeshi woman presented with vitreous amyloidosis and progressive autonomic neuropathy of the digestive tract as initial clinical manifestations, with no clinical evidence of cardiac, renal, central nervous system, or peripheral nerve dysfunction. A novel transthyretin mutation, p.Gly87Arg, was identified in the heterozygous state in this proband of Bangladeshi origin. Histological examination of accessory salivary glands and gastric biopsies revealed Congo-red-positive deposits. Laser microdissection of salivary gland Congo-red deposits and tandem mass spectrometry-based proteomic analysis identified the mutated transthyretin peptide containing the arginine residue at position 87 of the mature protein., Conclusions: Vitreous amyloidosis should be considered a differential diagnosis of uveitis, in particular transthyretin amyloidosis. Proteomics data from our case, consistent with the genetic findings, highly suggests that this new p.Gly87Arg variant is amyloidogenic. Here, we described the second case of transthyretin amyloidosis reported in a Bangladeshi patient.
- Published
- 2017
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13. Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia.
- Author
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Orhant L, Anselem O, Fradin M, Becker PH, Beugnet C, Deburgrave N, Tafuri G, Letourneur F, Goffinet F, Allach El Khattabi L, Leturcq F, Bienvenu T, Tsatsaris V, and Nectoux J
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- Achondroplasia blood, Achondroplasia genetics, Algorithms, Case-Control Studies, DNA genetics, Female, Humans, Mutation, Missense, Polymerase Chain Reaction, Pregnancy, Prenatal Diagnosis, Receptor, Fibroblast Growth Factor, Type 3 genetics, Sensitivity and Specificity, Sequence Analysis, DNA, Achondroplasia diagnosis, DNA blood, Maternal Serum Screening Tests
- Abstract
Background: Achondroplasia is generally detected by abnormal prenatal ultrasound findings in the third trimester of pregnancy and then confirmed by molecular genetic testing of fetal genomic DNA obtained by aspiration of amniotic fluid. This invasive procedure presents a small but significant risk for both the fetus and mother. Therefore, non-invasive procedures using cell-free fetal DNA in maternal plasma have been developed for the detection of the fetal achondroplasia mutations., Methods: To determine whether the fetus carries the de novo mis-sense genetic mutation at nucleotide 1138 in FGFR3 gene involved in >99% of achondroplasia cases, we developed two independent methods: digital-droplet PCR combined with minisequencing, which are very sensitive methods allowing detection of rare alleles., Results: We collected 26 plasmatic samples from women carrying fetus at risk of achondroplasia and diagnosed to date a total of five affected fetuses in maternal blood. The sensitivity and specificity of our test are respectively 100% [95% confidence interval, 56.6-100%] and 100% [95% confidence interval, 84.5-100%]., Conclusions: This novel, original strategy for non-invasive prenatal diagnosis of achondroplasia is suitable for implementation in routine clinical testing and allows considering extending the applications of these technologies in non-invasive prenatal diagnosis of many other monogenic diseases. © 2016 John Wiley & Sons, Ltd., (© 2016 John Wiley & Sons, Ltd.)
- Published
- 2016
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14. When a mid-intronic variation of DMD gene creates an ESE site.
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Trabelsi M, Beugnet C, Deburgrave N, Commere V, Orhant L, Leturcq F, and Chelly J
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- DNA Mutational Analysis, Exons, Humans, Introns, Middle Aged, Muscular Dystrophy, Duchenne physiopathology, RNA Splicing, RNA, Messenger, Dystrophin genetics, Muscular Dystrophy, Duchenne genetics
- Abstract
Duchenne and Becker muscular dystrophy are X-linked allelic disorders caused by mutations in the DMD gene. The majority (65%) of these mutations are intragenic deletions/duplications that often lead to frameshift errors. Among the remaining ones, we find the mid-intronic mutations that usually create cryptic exons by activating potential splice sites. In this report, we identified, in a Becker muscular dystrophy patient, a mid-intronic variation that creates two ESE sites in intron 26 of DMD gene resulting in the insertion of a new cryptic exon in mRNA. Despite the out of frame character of this mutation, we observed the production of a reduced amount of full-size dystrophin which could be explained by the alternation between normal and altered splicing of dystrophin mRNA in this patient. To our knowledge, this is the first case report describing this novel pathogenic mechanism of mid-intronic variations of DMD gene., (Copyright © 2014 Elsevier B.V. All rights reserved.)
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- 2014
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15. Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method.
- Author
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Saillour Y, Cossée M, Leturcq F, Vasson A, Beugnet C, Poirier K, Commere V, Sublemontier S, Viel M, Letourneur F, Barbot JC, Deburgrave N, Chelly J, and Bienvenu T
- Subjects
- Cystic Fibrosis diagnosis, Cystic Fibrosis genetics, Cystic Fibrosis Transmembrane Conductance Regulator genetics, DNA Mutational Analysis methods, Dystrophin genetics, Female, Genetic Diseases, Inborn diagnosis, Genotype, Humans, Male, Methods, Muscular Dystrophy, Duchenne diagnosis, Muscular Dystrophy, Duchenne genetics, Mutation, Sarcoglycans genetics, Exons genetics, Gene Dosage genetics, Genetic Diseases, Inborn genetics, Oligonucleotide Array Sequence Analysis methods
- Abstract
Genomic copy-number variations (CNVs) involving large DNA segments are known to cause many genetic disorders. Depending on the changes, they are predicted to lead either to decreased or an increased gene expression. However, the ability to detect smaller exonic copy-number changes has not been explored. Here we describe a new oligonucleotide-based comparative genomic hybridization (CGH)-array approach for high-throughput detection of exonic deletions or duplications and its application to deletion/duplication analyses of the genes encoding CFTR, six sarcoglycans (SGCA, SGCB, SGCG, SGCD, SGCE, and SGCZ), and DMD. In this work we show the successful development of an array format containing 158 exons that collectively span eight genes and its clinical application for the rapid screening of deletions and duplications in a diagnostic setting. We have analyzed a series of 35 DNA samples from patients affected with cystic fibrosis (CF), Duchenne and Becker muscular dystrophies (DMD/BMD), or sarcoglycanopathies, and have characterized exonic copy-number changes that have been validated with other methods. Interestingly, even heterozygous deletions and duplications of only one exon, as well as mosaic deletions, were detected by this CGH approach. Our results showed that the resolution is very high, as abnormalities of about 1.5-2 kb could be detected. Since this approach is completely scalable, this new molecular tool will allow the screening of combinations of genes involved in a particular group of clinically and genetically heterogeneous disorders such as mental retardation, muscular dystrophies and brain malformations.
- Published
- 2008
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16. Revised spectrum of mutations in sarcoglycanopathies.
- Author
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Trabelsi M, Kavian N, Daoud F, Commere V, Deburgrave N, Beugnet C, Llense S, Barbot JC, Vasson A, Kaplan JC, Leturcq F, and Chelly J
- Subjects
- Alleles, Base Sequence, Blotting, Western, Chromosome Segregation genetics, DNA Mutational Analysis, Exons genetics, Female, Gene Expression Regulation, Genotype, Heterozygote, Humans, Male, Molecular Sequence Data, Pedigree, Reverse Transcriptase Polymerase Chain Reaction, Sequence Deletion, Muscular Dystrophies genetics, Mutation genetics, Sarcoglycans genetics
- Abstract
To define the spectrum of mutations in alpha-, beta-, gamma-, and delta-sarcoglycan (SG) genes, we analyzed these genes in 69 probands with clinical and biological criteria compatible with the diagnosis of autosomal recessive limb-girdle muscular dystrophy. For 48 patients, muscle biopsies were available and multiplex western blot analysis of muscle proteins showed significant abnormalities of alpha- and gamma-SG. Our diagnostic strategy includes multiplex western blot, sequencing of SG genes, multiplex quantitative-fluorescent PCR and RT-PCR analyses. Mutations were detected in 57 patients and homozygous or compound heterozygous mutations were identified in 75% (36/48) of the patients with abnormal western blot, and in 52% (11/21) of the patients without muscle biopsy. Involvement of alpha-SG was demonstrated in 55.3% of cases (26/47), whereas gamma- and beta-SG were implicated in 25.5% (12/47) and in 17% (8/47) of cases, respectively. Interestingly, we identified 25 novel mutations, and a significant proportion of these mutations correspond to deletions (identified in 14 patients) of complete exon(s) of alpha- or gamma-SG genes, and partial duplications (identified in 5 patients) of exon 1 of beta-SG gene. This study highlights the high frequency of exonic deletions of alpha- and gamma-SG genes, as well as the presence of a hotspot of duplications affecting exon 1 of the beta-SG gene. In addition, protein analysis by multiplex western blot in combination with mutation screening and genotyping results allowed to propose a comprehensive and efficient diagnostic strategy and strongly suggested the implication of additional genes, yet to be identified, in sarcoglycanopathy-like disorders.
- Published
- 2008
- Full Text
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