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https://www.readbyqxmd.com/read/29792937/a-reliable-targeted-next-generation-sequencing-strategy-for-diagnosis-of-myopathies-and-muscular-dystrophies-especially-for-the-giant-titin-and-nebulin-genes
#1
Reda Zenagui, Delphine Lacourt, Henri Pegeot, Kevin Yauy, Raul Juntas Morales, Corine Theze, François Rivier, Claude Cances, Guilhem Sole, Dimitri Renard, Ulrike Walther-Louvier, Xavier Ferrer-Monasterio, Caroline Espil, Marie-Christine Arné-Bes, Pascal Cintas, Emmanuelle Uro-Coste, Marie-Laure Martin Negrier, Valérie Rigau, Eric Bieth, Cyril Goizet, Mireille Claustres, Michel Koenig, Mireille Cossée
Myopathies and muscular dystrophies (M-MDs) are genetically heterogeneous diseases, with more than 100 identified genes, including the giant and complex titin (TTN) and nebulin (NEB) genes. Next-generation sequencing technology revolutionized M-MD diagnosis and revealed high frequency of TTN and NEB variants. We developed a next-generation sequencing diagnostic strategy targeted on the coding sequences of 135 M-MD genes. Comparison of two targeted capture technologies (SeqCap EZ Choice library capture kit (Roche-Nimblegen) and Nextera Rapid Capture Custom Enrichment kit (Illumina)) and of two whole exome sequencing kits (SureSelect V5 (Agilent) and TruSeq RapidExome capture (Illumina)) revealed best coverage with the SeqCap EZ Choice protocol...
May 21, 2018: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/29791652/inflammatory-myopathy-in-the-context-of-an-unusual-overlapping-laminopathy
#2
Cristina Guillín-Amarelle, Sofía Sánchez-Iglesias, Antonio Mera, Elena Pintos, Ana Castro-Pais, Leticia Rodríguez-Cañete, Julio Pardo, Felipe F Casanueva, David Araújo-Vilar
Laminopathies are genetic disorders associated with alterations in nuclear envelope proteins, known as lamins. The LMNA gene encodes lamins A and C, and LMNA mutations have been linked to diseases involving fat (type 2 familial partial lipodystrophy [FPLD2]), muscle (type 2 Emery-Dreifuss muscular dystrophy [EDMD2], type 1B limb-girdle muscular dystrophy [LGMD1B], and dilated cardiomyopathy), nerves (type 2B1 Charcot-Marie-Tooth disease), and premature aging syndromes. Moreover, overlapping syndromes have been reported...
May 17, 2018: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29785639/development-of-a-molecular-diagnostic-test-for-retinitis-pigmentosa-in-the-japanese-population
#3
Akiko Maeda, Akiko Yoshida, Kanako Kawai, Yuki Arai, Ryutaro Akiba, Akira Inaba, Seiji Takagi, Ryoji Fujiki, Yasuhiko Hirami, Yasuo Kurimoto, Osamu Ohara, Masayo Takahashi
PURPOSE: Retinitis Pigmentosa (RP) is the most common form of inherited retinal dystrophy caused by different genetic variants. More than 60 causative genes have been identified to date. The establishment of cost-effective molecular diagnostic tests with high sensitivity and specificity can be beneficial for patients and clinicians. Here, we developed a clinical diagnostic test for RP in the Japanese population. STUDY DESIGN: Evaluation of diagnostic technology, Prospective, Clinical and experimental study...
May 21, 2018: Japanese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29785524/a-9-year-follow-up-study-of-quantitative-muscle-strength-changes-in-myotonic-dystrophy-type-1
#4
Cynthia Gagnon, Émilie Petitclerc, Marie Kierkegaard, Jean Mathieu, Élise Duchesne, Luc J Hébert
Myotonic dystrophy type 1 (DM1) is a neuromuscular disorder presenting with major muscle impairments. However, few studies have addressed muscle strength progression using quantitative methods. The aims of this study were to document muscle strength changes in eight muscle groups among adults with DM1 over a 9-year period, and to compare this progression between phenotypes (adult and late-onset) and sex. Patients with a genetic diagnosis of DM1 with the late-onset or the adult phenotype were recruited at baseline through the clinical registry of the Saguenay Neuromuscular Clinic...
May 21, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29785116/myopathy-due-to-hmgcr-antibodies-in-adult-mimicking-muscular-dystrophy-associated-with-cancer-and-statin-exposure-narrative-review-of-the-literature-case-report
#5
Alzira Alves de Siqueira Carvalho, Vinicius Gomes da Silva, Edmar Zanoteli, David Feder
Necrotizing autoimmune myopathy is characterized by predominant muscle fiber necrosis and regeneration with little or no inflammation. We describe a 58-year-old woman with previous breast cancer and statin use who complained of rapidly progressive weakness of lower limbs without pain, making walking, running and climbing stairs difficult. The creatine kinase level was 2,843 U/L, and muscle biopsy showed a dystrophic pattern. The genetic test for muscular dystrophies was negative and for anti-3-hydroxy-3-methylglutaryl coenzyme A reductase was positive...
2018: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/29783100/cd133-cells-derived-from-skeletal-muscles-of-duchenne-muscular-dystrophy-patients-have-a-compromised-myogenic-and-muscle-regenerative-capability
#6
Jinhong Meng, Francesco Muntoni, Jennifer Morgan
Cell-mediated gene therapy is a possible means to treat muscular dystrophies like Duchenne muscular dystrophy. Autologous patient stem cells can be genetically-corrected and transplanted back into the patient, without causing immunorejection problems. Regenerated muscle fibres derived from these cells will express the missing dystrophin protein, thus improving muscle function. CD133+ cells derived from normal human skeletal muscle contribute to regenerated muscle fibres and form muscle stem cells after their intra-muscular transplantation into an immunodeficient mouse model...
May 12, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29781327/the-progress-of-aav-mediated-gene-therapy-in-neuromuscular-disorders
#7
Sara Aguti, Alberto Malerba, Haiyan Zhou
The well-defined genetic causes and monogenetic nature of many neuromuscular disorders, including Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA), present gene therapy as a prominent therapeutic approach. The novel variants of adeno-associated virus (AAV) can achieve satisfactory transduction efficiency of exogenous genes through the central nervous system and body-wide in skeletal muscle. Areas covered: In this review, we summarize the strategies of AAV gene therapy that are currently under preclinical and clinical evaluation for the treatment of degenerative neuromuscular disorders, with a focus on diseases such as DMD and SMA...
May 20, 2018: Expert Opinion on Biological Therapy
https://www.readbyqxmd.com/read/29779596/muscular-dystrophies
#8
REVIEW
John C Carter, Daniel W Sheehan, Andre Prochoroff, David J Birnkrant
Muscular dystrophies represent a complex, varied, and important subset of neuromuscular disorders likely to require the care of a pulmonologist. The spectrum of conditions encapsulated by this subset ranges from severe and fatal congenital muscular dystrophies with onset in infancy to mild forms of limb and girdle weakness with onset in adulthood and minimal respiratory compromise. The list and classification of muscular dystrophies are undergoing near-constant revision, based largely on new insights from genetics and molecular medicine...
June 2018: Clinics in Chest Medicine
https://www.readbyqxmd.com/read/29778277/interpretation-of-acid-%C3%AE-glucosidase-activity-in-creatine-kinase-elevation-a-case-of-becker-muscular-dystrophy
#9
Yoshiki Oitani, Akihiko Ishiyama, Motomichi Kosuga, Kentaro Iwasawa, Ayako Ogata, Fumiko Tanaka, Eri Takeshita, Yuko Shimizu-Motohashi, Hirofumi Komaki, Ichizo Nishino, Torayuki Okuyama, Masayuki Sasaki
BACKGROUND: Diagnosis of Pompe disease is sometimes challenging because it exhibits clinical similarities to muscular dystrophy. CASE: We describe a case of Becker muscular dystrophy (BMD) with a remarkable reduction in activity of the acid α-glucosidase (GAA) enzyme, caused by a combination of pathogenic mutation and polymorphism variants resulting in pseudodeficiency in GAA. The three-year-old boy demonstrated asymptomatic creatine kinase elevation. Neither exon deletion nor duplication was detected on multiplex ligation-dependent probe amplification (MLPA) of DMD...
May 16, 2018: Brain & Development
https://www.readbyqxmd.com/read/29772730/at-the-crossroads-of-clinical-and-preclinical-research-for-muscular-dystrophy-are-we-closer-to-effective-treatment-for-patients
#10
REVIEW
Kinga I Gawlik
Among diseases affecting skeletal muscle, muscular dystrophy is one of the most devastating and complex disorders. The term 'muscular dystrophy' refers to a heterogeneous group of genetic diseases associated with a primary muscle defect that leads to progressive muscle wasting and consequent loss of muscle function. Muscular dystrophies are accompanied by numerous clinical complications and abnormalities in other tissues that cause extreme discomfort in everyday life. The fact that muscular dystrophy often takes its toll on babies and small children, and that many patients die at a young age, adds to the cruel character of the disease...
May 16, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29771317/exon-skipping-advances-for-duchenne-muscular-dystrophy
#11
Lucía Echevarría, Philippine Aupy, Aurélie Goyenvalle
Duchenne muscular dystrophy (DMD) is a fatal genetic disorder characterized by progressive muscle wasting that has currently no cure. Exon-skipping strategy represents one of the most promising therapeutic approaches that aims to restore expression of a shorter but functional dystrophin protein. The antisense field has remarkably progress over the last years with recent accelerated approval of the first ASO-based therapy for DMD, Exondys 51, though the therapeutic benefit remains to be proven in patients. Despite clinical advances, the poor effective delivery to target all muscle remains the main hurdle for antisense drug therapy...
May 16, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29770205/beginning-at-the-ends-telomeres-and-human-disease
#12
REVIEW
Sharon A Savage
Studies of rare and common illnesses have led to remarkable progress in the understanding of the role of telomeres (nucleoprotein complexes at chromosome ends essential for chromosomal integrity) in human disease. Telomere biology disorders encompass a growing spectrum of conditions caused by rare pathogenic germline variants in genes encoding essential aspects of telomere function. Dyskeratosis congenita, a disorder at the severe end of this spectrum, typically presents in childhood with the classic triad of abnormal skin pigmentation, nail dystrophy, and oral leukoplakia, accompanied by a very high risk of bone marrow failure, cancer, pulmonary fibrosis, and other medical problems...
2018: F1000Research
https://www.readbyqxmd.com/read/29769798/novel-variants-identified-with-next-generation-sequencing-in-polish-patients-with-cone-rod-dystrophy
#13
Anna Wawrocka, Anna Skorczyk-Werner, Katarzyna Wicher, Zuzanna Niedziela, Rafal Ploski, Malgorzata Rydzanicz, Maciej Sykulski, Jaroslaw Kociecki, Nicole Weisschuh, Susanne Kohl, Saskia Biskup, Bernd Wissinger, Maciej R Krawczynski
Purpose: The aim of this study was to identify the molecular genetic basis of cone-rod dystrophy in 18 unrelated families of Polish origin. Cone-rod dystrophy is one of the inherited retinal dystrophies, which constitute a highly heterogeneous group of disorders characterized by progressive dysfunction of photoreceptors and retinal pigment epithelium (RPE) cells. Methods: The study group was composed of four groups of patients representing different Mendelian inheritance of the disease: autosomal dominant (AD), autosomal recessive (AR), X-linked recessive (XL), and autosomal recessive or X-linked recessive (AR/XL)...
2018: Molecular Vision
https://www.readbyqxmd.com/read/29765283/integration-of-multigene-panels-for-the-diagnosis-of-hereditary-retinal-disorders-using-next-generation-sequencing-and-bioinformatics-approaches
#14
Chiara Di Resta, Ivana Spiga, Silvia Presi, Stefania Merella, Giovanni Battista Pipitone, Maria Pia Manitto, Giuseppe Querques, Maurizio Battaglia Parodi, Maurizio Ferrari, Paola Carrera
In recent years, Next-Generation Sequencing (NGS) opened a new way for the study of pathogenic mechanisms and for molecular diagnosis of inherited disorders. In the present work, we focused our attention on the inherited retinal dystrophies (IRDs), a group of specific disorders of the retina, displaying a very high clinical and genetic heterogeneity, whose genetic diagnosis is not easily feasible. It represents a paradigmatic example for the integration of clinical and molecular examination toward precision medicine...
April 2018: EJIFCC
https://www.readbyqxmd.com/read/29764566/laminopathies-mutations-on-single-gene-and-various-human-genetic-diseases
#15
So-Mi Kang, Min-Ho Yoon, Bum-Joon Park
Lamin A and its alternative splicing product Lamin C are the key intermediate filaments (IFs) of the inner nuclear membrane intermediate filament. Lamin A/C forms the inner nuclear mesh with Lamin B and works as a frame with a nuclear shape. In addition to supporting the function of nucleus, nuclear lamins perform important roles such as holding the nuclear pore complex and chromatin. However, mutations on the Lamin A or Lamin B related proteins induce various types of human genetic disorders and diseases including premature aging syndromes, muscular dystrophy, lipodystrophy and neuropathy...
May 16, 2018: BMB Reports
https://www.readbyqxmd.com/read/29760528/lrrtm4-c538y-novel-gene-mutation-is-associated-with-hereditary-macular-degeneration-with-novel-dysfunction-of-on-type-bipolar-cells
#16
Yuichi Kawamura, Akiko Suga, Takuro Fujimaki, Kazutoshi Yoshitake, Kazushige Tsunoda, Akira Murakami, Takeshi Iwata
The macula is a unique structure in higher primates, where cone and rod photoreceptors show highest density in the fovea and the surrounding area, respectively. The hereditary macular dystrophies represent a heterozygous group of rare disorders characterized by central visual loss and atrophy of the macula and surrounding retina. Here we report an atypical absence of ON-type bipolar cell response in a Japanese patient with autosomal dominant macular dystrophy (adMD). To identify a causal genetic mutation for the adMD, we performed whole-exome sequencing (WES) on four affected and four-non affected members of the family for three generations, and identified a novel p...
May 14, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29760442/cross-ancestry-genome-wide-association-analysis-of-corneal-thickness-strengthens-link-between-complex-and-mendelian-eye-diseases
#17
Adriana I Iglesias, Aniket Mishra, Veronique Vitart, Yelena Bykhovskaya, René Höhn, Henriët Springelkamp, Gabriel Cuellar-Partida, Puya Gharahkhani, Jessica N Cooke Bailey, Colin E Willoughby, Xiaohui Li, Seyhan Yazar, Abhishek Nag, Anthony P Khawaja, Ozren Polašek, David Siscovick, Paul Mitchell, Yih Chung Tham, Jonathan L Haines, Lisa S Kearns, Caroline Hayward, Yuan Shi, Elisabeth M van Leeuwen, Kent D Taylor, Pieter Bonnemaijer, Jerome I Rotter, Nicholas G Martin, Tanja Zeller, Richard A Mills, Sandra E Staffieri, Jost B Jonas, Irene Schmidtmann, Thibaud Boutin, Jae H Kang, Sionne E M Lucas, Tien Yin Wong, Manfred E Beutel, James F Wilson, André G Uitterlinden, Eranga N Vithana, Paul J Foster, Pirro G Hysi, Alex W Hewitt, Chiea Chuen Khor, Louis R Pasquale, Grant W Montgomery, Caroline C W Klaver, Tin Aung, Norbert Pfeiffer, David A Mackey, Christopher J Hammond, Ching-Yu Cheng, Jamie E Craig, Yaron S Rabinowitz, Janey L Wiggs, Kathryn P Burdon, Cornelia M van Duijn, Stuart MacGregor
Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and identify 19 novel regions. In addition to adding support for known connective tissue-related pathways, pathway analyses uncover previously unreported gene sets. Remarkably, >20% of the CCT-loci are near or within Mendelian disorder genes. These included FBN1, ADAMTS2 and TGFB2 which associate with connective tissue disorders (Marfan, Ehlers-Danlos and Loeys-Dietz syndromes), and the LUM-DCN-KERA gene complex involved in myopia, corneal dystrophies and cornea plana...
May 14, 2018: Nature Communications
https://www.readbyqxmd.com/read/29758347/gene-analysis-a-rare-gene-disease-of-intellectual-deficiency-cohen-syndrome
#18
Chengqing Yang, Mei Hou, Yutang Li, Dianrong Sun, Ya Guo, Peipei Liu, Yedan Liu, Jie Song, Na Zhang, Wei Wei, Zongbo Chen
Cohen syndrome is a rare, genetic, connective-tissue disorder, which is caused by mutations in the gene COH1 (VPS13B, Vacuolar Protein Sorting 13 Homolog B) at the chromosome 8q22. The disease is rare reported, which major clinical features include postnatal microcephaly, obesity, short stature, intellectual disability, progressive retinal dystrophy, intermittent neutropenia and many other unusual facial feature. We report four patients in China who were diagnosed with Cohen syndrome by genetic testing and clinical manifestations...
May 11, 2018: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/29749994/simultaneous-presence-of-macular-corneal-dystrophy-and-retinitis-pigmentosa-in-three-members-of-a-family
#19
Farhad Nejat, Hossein Aghamollaei, Shiva Pirhadi, Khosrow Jadidi, Mohammad Amin Nejat
Macular corneal dystrophy (MCD) is an autosomal recessive hereditary disease. In most cases, various mutations in carbohydrate sulfotransferase 6 (CHST6) gene are the main cause of MCD. These mutations lead to a defect in keratan sulfate synthesis. Retinitis pigmentosa (RP) is another eye disorder with nyctalopia as its common symptom. It has been shown that more than 65 genes have been implicated in different forms of RP. Herein, we report on a 9-member family with 2 girls and 5 boys. Both parents, one of the girls and one of the boys had normal eye vision and another boy had keratoconus...
March 2018: Iranian Journal of Medical Sciences
https://www.readbyqxmd.com/read/29739362/case-report-of-a-novel-homozygous-splice-site-mutation-in-pla2g6-gene-causing-infantile-neuroaxonal-dystrophy-in-a-sudanese-family
#20
Liena E O Elsayed, Inaam N Mohammed, Ahlam A A Hamed, Maha A Elseed, Mustafa A M Salih, Ashraf Yahia, Rayan A Siddig, Mutaz Amin, Mahmoud Koko, Mustafa I Elbashir, Muntaser E Ibrahim, Alexis Brice, Ammar E Ahmed, Giovanni Stevanin
BACKGROUND: Infantile neuroaxonal dystrophy (INAD) is a rare hereditary neurological disorder caused by mutations in PLA2G6. The disease commonly affects children below 3 years of age and presents with delay in motor skills, optic atrophy and progressive spastic tetraparesis. Studies of INAD in Africa are extremely rare, and genetic studies from Sub Saharan Africa are almost non-existent. CASE PRESENTATION: Two Sudanese siblings presented, at ages 18 and 24 months, with regression in both motor milestones and speech development and hyper-reflexia...
May 8, 2018: BMC Medical Genetics
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