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https://read.qxmd.com/read/30783801/diagnostic-utility-of-a-targeted-next-generation-sequencing-gene-panel-in-the-clinical-suspicion-of-systemic-autoinflammatory-diseases-a-multi-center-study
#1
İlker Karacan, Ayşe Balamir, Serdal Uğurlu, Aslı Kireçtepe Aydın, Elif Everest, Seyit Zor, Merve Özkılınç Önen, Selçuk Daşdemir, Ozan Özkaya, Betül Sözeri, Abdurrahman Tufan, Deniz Gezgin Yıldırım, Selçuk Yüksel, Nuray Aktay Ayaz, Rukiye Eker Ömeroğlu, Kübra Öztürk, Mustafa Çakan, Oğuz Söylemezoğlu, Sezgin Şahin, Kenan Barut, Amra Adroviç, Emire Seyahi, Huri Özdoğan, Özgür Kasapçopur, Eda Tahir Turanlı
Systemic autoinflammatory diseases (sAIDs) are a heterogeneous group of disorders, having monogenic inherited forms with overlapping clinical manifestations. More than half of patients do not carry any pathogenic variant in formerly associated disease genes. Here, we report a cross-sectional study on targeted Next-Generation Sequencing (NGS) screening in patients with suspected sAIDs to determine the diagnostic utility of genetic screening. Fifteen autoinflammation/immune-related genes (ADA2-CARD14-IL10RA-LPIN2-MEFV-MVK-NLRC4-NLRP12-NLRP3-NOD2-PLCG2-PSTPIP1-SLC29A3-TMEM173-TNFRSF1A) were used to screen 196 subjects from adult/pediatric clinics, each with an initial clinical suspicion of one or more sAID diagnosis with the exclusion of typical familial Mediterranean fever (FMF) patients...
February 19, 2019: Rheumatology International
https://read.qxmd.com/read/30783266/correction-the-phenotypic-spectrum-of-wwox-related-disorders-20-additional-cases-of-woree-syndrome-and-review-of-the-literature
#2
Juliette Piard, Lara Hawkes, Mathieu Milh, Laurent Villard, Renato Borgatti, Romina Romaniello, Melanie Fradin, Yline Capri, Delphine Héron, Marie-Christine Nougues, Caroline Nava, Oana Tarta Arsene, Debbie Shears, John Taylor, Alistair Pagnamenta, Jenny C Taylor, Yoshimi Sogawa, Diana Johnson, Helen Firth, Pradeep Vasudevan, Gabriela Jones, Marie-Ange Nguyen-Morel, Tiffany Busa, Agathe Roubertie, Myrthe van den Born, Elise Brischoux-Boucher, Michel Koenig, Cyril Mignot, Usha Kini, Christophe Philippe
The article has been corrected to account for one patient being investigated through genome sequencing rather than exome sequencing as originally published; thus amendments to the Abstract and Methods have been made as well as addition of the relevant authors and acknowledgment.
February 20, 2019: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/30782612/the-global-clonal-complexity-of-the-murine-blood-system-declines-throughout-life-and-after-serial-transplantation
#3
Miguel Ganuza, Trent Hall, David Finkelstein, Yong-Dong Wang, Ashley Chabot, Guolian Kang, Wenjian Bi, Gang Wu, Shannon McKinney-Freeman
Although many recent studies describe the emergence and prevalence of 'clonal-hematopoiesis of indeterminate-potential' (CHIP) in aged human populations, a systematic analysis of the numbers of clones supporting steady-state hematopoiesis throughout mammalian life is lacking. Previous efforts relied on transplantation of 'barcoded' hematopoietic stem cells (HSC) to track the contribution of HSC clones to reconstituted blood. However, ex vivo manipulation and transplantation alter HSC function and thus may not reflect the biology of steady-state hematopoiesis...
February 19, 2019: Blood
https://read.qxmd.com/read/30782130/novel-mutations-of-stxbp2-and-lyst-associated-with-adult-haemophagocytic-lymphohistiocytosis-with-epstein-barr-virus-infection-a-case-report
#4
Lingshuang Sheng, Wei Zhang, Jia Gu, Kefeng Shen, Hui Luo, Yang Yang
BACKGROUND: Haemophagocytic lymphohistiocytosis is a life-threatening disease resulting from primary or secondary hyper-inflammatory disorders. The typical symptoms include persistent fever, splenomegaly, cytopenia and significant elevation of serum ferritin. CASE PRESENTATION: We report a 30-year-old Chinese female patient who was diagnosed with chronic active Epstein-Barr virus infection more than 9 months prior and has since been presenting with cutaneous lymphoproliferative disorders mimicking hydroa vacciniforme and subsequent haemophagocytic lymphohistiocytosis...
February 19, 2019: BMC Medical Genetics
https://read.qxmd.com/read/30779877/wdr72-mutations-associated-with-amelogenesis-imperfecta-and-acidosis
#5
H Zhang, M Koruyucu, F Seymen, Y Kasimoglu, J-W Kim, S Tinawi, C Zhang, M L Jacquemont, A R Vieira, J P Simmer, J C C Hu
Dental enamel malformations, or amelogenesis imperfecta (AI), can be isolated or syndromic. To improve the prospects of making a successful diagnosis by genetic testing, it is important that the full range of genes and mutations that cause AI be determined. Defects in WDR72 (WD repeat-containing protein 72; OMIM *613214) cause AI, type IIA3 (OMIM #613211), which follows an autosomal recessive pattern of inheritance. The defective enamel is normal in thickness, severely hypomineralized, orange-brown stained, and susceptible to attrition...
February 19, 2019: Journal of Dental Research
https://read.qxmd.com/read/30779484/-the-israeli-inherited-retinal-diseases-consortium-iirdc-clinical-genetic-mapping-and-future-perspectives
#6
Dror Sharon, Tamar Ben-Yosef, Eran Pras, Nitza Goldenberg-Cohen, Libe Gradstein, Noam Shomron, Ohad Birk, Miriam Ehrenberg, Jaime Levy, Eedy Mezer, Shiri Soudry, Ygal Rotenstreich, Hadas Newman, Rina Leibu, Eyal Banin, Ido Perlman
INTRODUCTION: The sense of vision is highly important for humans and its loss markedly affects function and quality of life. Many inherited retinal diseases (IRDs) cause visual loss due to dysfunction or progressive degeneration of photoreceptor cells. These diseases show clinical and genetic heterogeneity. AIMS: The Israeli IRD consortium (IIRDC) was established with the goal of performing clinical and genetic mapping of IRDs in the Israeli population. METHODS: Clinical evaluation is carried out at electroretinography (ERG) centers and ophthalmology departments, where the patients undergo a comprehensive eye exam, including testing of visual acuity, refractive error, imaging techniques and ERG tests...
February 2019: Harefuah
https://read.qxmd.com/read/30779404/readiness-of-clinical-genetic-healthcare-professionals-to-provide-genomic-medicine-an-australian-census
#7
Amy Nisselle, Ivan Macciocca, Fiona McKenzie, Hannah Vuong, Kate Dunlop, Belinda McClaren, Sylvia Metcalfe, Clara Gaff
We aimed to determine capacity and readiness of Australian clinical genetic healthcare professionals to provide genomic medicine. An online survey was administered to individuals with genetic counseling or clinical genetics qualifications in Australia. Data collected included: education, certification, continuing professional development (CPD), employment, and genetic versus genomic clinical practice. Of the estimated 630 clinical genetic healthcare professionals in Australia, 354 completed the survey (56.2% response rate)...
February 19, 2019: Journal of Genetic Counseling
https://read.qxmd.com/read/30779244/a-recurrent-clonally-distinct-burkitt-lymphoma-case-highlights-genetic-key-events-contributing-to-oncogenesis
#8
Dominique Penther, Pierre-Julien Viailly, Sylvain Latour, Pascaline Etancelin, Elodie Bohers, Hélène Vellemans, Vincent Camus, Anne Lise Menard, Sophie Coutant, Hélène Lanic, Emilie Lemasle, Fanny Drieux, Liana Veresezan, Philippe Ruminy, Anna Raimbault, Jean Soulier, Thierry Frebourg, Hervé Tilly, Fabrice Jardin
Burkitt lymphoma (BL) is characterized by a translocation of the MYC oncogene that leads to the upregulation of MYC expression, cell growth and proliferation. It is well-established that MYC translocation is not a sufficient genetic event to cause BL. Next-generation sequencing has recently provided a comprehensive analysis of the landscape of additional genetic events that contribute to BL lymphomagenesis. Refractory BL or relapsing BL are almost always incurable as a result of the selection of a highly chemoresistant clonally related cell population...
February 18, 2019: Genes, Chromosomes & Cancer
https://read.qxmd.com/read/30777892/a-deep-proteome-and-transcriptome-abundance-atlas-of-29-healthy-human-tissues
#9
Dongxue Wang, Basak Eraslan, Thomas Wieland, Björn Hallström, Thomas Hopf, Daniel Paul Zolg, Jana Zecha, Anna Asplund, Li-Hua Li, Chen Meng, Martin Frejno, Tobias Schmidt, Karsten Schnatbaum, Mathias Wilhelm, Frederik Ponten, Mathias Uhlen, Julien Gagneur, Hannes Hahne, Bernhard Kuster
Genome-, transcriptome- and proteome-wide measurements provide insights into how biological systems are regulated. However, fundamental aspects relating to which human proteins exist, where they are expressed and in which quantities are not fully understood. Therefore, we generated a quantitative proteome and transcriptome abundance atlas of 29 paired healthy human tissues from the Human Protein Atlas project representing human genes by 18,072 transcripts and 13,640 proteins including 37 without prior protein-level evidence...
February 18, 2019: Molecular Systems Biology
https://read.qxmd.com/read/30777867/-met-mutation-causes-muscular-dysplasia-and-arthrogryposis
#10
Hang Zhou, Chengjie Lian, Tingting Wang, Xiaoming Yang, Caixia Xu, Deying Su, Shuhui Zheng, Xiangyu Huang, Zhiheng Liao, Taifeng Zhou, Xianjian Qiu, Yuyu Chen, Bo Gao, Yongyong Li, Xudong Wang, Guoling You, Qihua Fu, Christina Gurnett, Dongsheng Huang, Peiqiang Su
Arthrogryposis is a group of phenotypically and genetically heterogeneous disorders characterized by congenital contractures of two or more parts of the body; the pathogenesis and the causative genes of arthrogryposis remain undetermined. We examined a four-generation arthrogryposis pedigree characterized by camptodactyly, limited forearm supination, and loss of myofibers in the forearms and hands. By using whole-exome sequencing, we confirmed MET p.Y1234C mutation to be responsible for arthrogryposis in this pedigree...
February 18, 2019: EMBO Molecular Medicine
https://read.qxmd.com/read/30777654/neuropathological-and-genetic-characteristics-of-a-post-mortem-series-of-cases-with-dementia-with-lewy-bodies-clinically-suspected-of-creutzfeldt-jakob-s-disease
#11
H Geut, L J M Vergouw, Y Galis, A Ingrassia, F J de Jong, M Quadri, V Bonifati, A W Lemstra, A J M Rozemuller, W D J van de Berg
INTRODUCTION: The disease course of dementia with Lewy bodies (DLB) can be rapidly progressive, clinically resembling Creutzfeldt-Jakob's disease (CJD). To better understand factors contributing to this rapidly progressive disease course, we describe load and distribution of neuropathology, and the presence of possible disease-associated genetic defects in a post-mortem series of DLB cases clinically suspected of CJD. METHODS: We included pathologically confirmed DLB cases with a disease duration of 3...
February 13, 2019: Parkinsonism & related Disorders
https://read.qxmd.com/read/30777055/expression-and-activity-of-the-calcitonin-receptor-family-in-a-sample-of-primary-human-high-grade-gliomas
#12
Anna Ostrovskaya, Caroline Hick, Dana S Hutchinson, Brett W Stringer, Peter J Wookey, Denise Wootten, Patrick M Sexton, Sebastian G B Furness
BACKGROUND: Glioblastoma (GBM) is the most common and aggressive type of primary brain cancer. With median survival of less than 15 months, identification and validation of new GBM therapeutic targets is of critical importance. RESULTS: In this study we tested expression and performed pharmacological characterization of the calcitonin receptor (CTR) as well as other members of the calcitonin family of receptors in high-grade glioma (HGG) cell lines derived from individual patient tumours, cultured in defined conditions...
February 18, 2019: BMC Cancer
https://read.qxmd.com/read/30776697/gene-mutational-analysis-in-a-cohort-of-chinese-children-with-unexplained-epilepsy-identification-of-a-new-kcnd3-phenotype-and-novel-genes-causing-dravet-syndrome
#13
Jiaping Wang, Yongxin Wen, Qingping Zhang, Shujie Yu, Yan Chen, Xiru Wu, YueHua Zhang, Xinhua Bao
PURPOSE: This study aimed to investigate the genetic etiology of epilepsy in a cohort of Chinese children. METHODS: Targeted next-generation sequencing (NGS) was performed for 120 patients with unexplained epilepsy, including 71 patients with early-onset epileptic encephalopathies, and 16 patients with Dravet syndrome (including three patients with a Dravet-like phenotype) but without SCN1A pathogenic variants. RESULTS: Pathogenic variants of 14 genes were discovered in 22 patients (18%)...
January 28, 2019: Seizure: the Journal of the British Epilepsy Association
https://read.qxmd.com/read/30776432/dynamic-evolution-of-clonal-composition-and-neoantigen-landscape-in-recurrent-metastatic-melanoma-with-a-rare-combination-of-driver-mutations
#14
Guillaume Davidson, Sébastien Coassolo, Alice Kieny, Marie Ennen, Erwan Pencreach, Gabriel G Malouf, Dan Lipsker, Irwin Davidson
In melanoma, initiating oncogenic mutations in BRAF or NRAS are detected in premalignant lesions that accumulate additional mutations and genomic instability as the tumour evolves to the metastatic state. Here we investigate evolution of clonal composition and neoantigen landscape in an atypical melanoma displaying recurrent cutaneous lesions over a 6-year period without development of extra-cutaneous metastases. Whole exome sequencing of 4 cutaneous lesions taken over the 6-year period identified a collection of single nucleotide variants (SNVs) and small insertions and deletions (Indels) shared amongst all tumours along with progressive selection of subclones displaying fewer SNVs...
February 15, 2019: Journal of Investigative Dermatology
https://read.qxmd.com/read/30776170/a-novel-approach-to-offering-additional-genomic-findings-a-protocol-to-test-a-two-step-approach-in-the-healthcare-system
#15
Melissa Martyn, Anaita Kanga-Parabia, Elly Lynch, Paul A James, Ivan Macciocca, Alison H Trainer, Jane Halliday, Louise Keogh, Janney Wale, Ingrid Winship, Michael Bogwitz, Giulia Valente, Maie Walsh, Lilian Downie, David Amor, Mathew Wallis, Fiona Cunningham, Matthew Burgess, Natasha J Brown, Anna Jarmolowicz, Sebastian Lunke, Ilias Goranitis, Clara L Gaff
Internationally, the practice of offering additional findings (AFs) when undertaking a clinically indicated genomic test differs. In the USA, the recommendation is to include analysis for AFs alongside diagnostic analysis, unless a patient opts-out, whereas European and Canadian guidelines recommend opt-in models. These guidelines all consider the offer of AFs as an activity concurrent with the offer of diagnostic testing. This paper describes a novel two-step model for managing AFs within the healthcare system in Victoria, Australia and presents the study protocol for its evaluation...
February 18, 2019: Journal of Genetic Counseling
https://read.qxmd.com/read/30775178/-in-silico-analysis-reveals-a-shared-immune-signature-in-casp8-mutated-carcinomas-with-varying-correlations-to-prognosis
#16
Yashoda Ghanekar, Subhashini Sadasivam
Background: Sequencing studies across multiple cancers continue to reveal mutations and genes involved in the pathobiology of these cancers. Exome sequencing of oral cancers, a subset of Head and Neck Squamous cell Carcinomas (HNSCs) common among tobacco-chewing populations, revealed that ∼34% of the affected patients harbor mutations in the CASP8 gene . Uterine Corpus Endometrial Carcinoma (UCEC) is another cancer where ∼10% cases harbor CASP8 mutations. Caspase-8, the protease encoded by CASP8 gene, plays a dual role in programmed cell death, which in turn has an important role in tumor cell death and drug resistance...
2019: PeerJ
https://read.qxmd.com/read/30775047/a-novel-de-novo-frameshift-mutation-in-kat6a-identified-by-whole-exome-sequencing
#17
Asem Alkhateeb, Wafa Alazaizeh
Intellectual disability is a common condition with multiple etiologies. The number of monogenic causes has increased steadily in recent years due to the implementation of next generation sequencing. Here, we describe a 2-year-old boy with global developmental delay and intellectual disability. The child had feeding difficulties since birth. He had delayed motor skills and muscular hypotonia. Brain magnetic resonance imaging revealed diffuse white matter loss and thinning of the corpus callosum. Banded karyotype and comparative genomic hybridization (CGH) array were normal...
March 2019: Journal of Pediatric Genetics
https://read.qxmd.com/read/30773818/expanding-the-genetic-and-clinical-spectrum-of-the-nono-associated-x-linked-intellectual-disability-syndrome
#18
Colleen M Carlston, Steven B Bleyl, Ashley Andrews, Lindsay Meyers, Sara Brown, Pinar Bayrak-Toydemir, James F Bale, Lorenzo D Botto
The NONO gene encodes a nuclear protein involved in RNA metabolism. Hemizygous loss-of-function NONO variants have been associated with syndromic intellectual disability and with left ventricular noncompaction (LVNC). A two-year-old boy presented to the University of Utah's Penelope Undiagnosed Disease Program with developmental delay, nonfamilial features, relative macrocephaly, and dilated cardiomyopathy with LVNC and Ebstein anomaly. Brain MRI showed a thick corpus callosum, mild Chiari I malformation, and a flattened pituitary...
February 17, 2019: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/30773800/homozygous-variant-in-otx2-and-possible-genetic-modifiers-identified-in-a-patient-with-combined-pituitary-hormone-deficiency-ocular-involvement-myopathy-ataxia-and-mitochondrial-impairment
#19
Alessia Catania, Andrea Legati, Lorenzo Peverelli, Lorenzo Nanetti, Silvia Marchet, Nadia Zanetti, Costanza Lamperti, Daniele Ghezzi
Here we report on a singleton patient affected by a complicated congenital syndrome characterized by growth delay, retinal dystrophy, sensorineural deafness, myopathy, ataxia, combined pituitary hormone deficiency, associated with mitochondrial impairment. Targeted clinical exome sequencing led to the identification of a homozygous missense variant in OTX2. Since only dominant mutations within OTX2 have been associated with cases of syndromic microphthalmia, retinal dystrophy with or without pituitary dysfunctions, this represents the first report of an OTX2 recessive mutation...
February 17, 2019: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/30773799/nid1-variant-associated-with-occipital-cephaloceles-in-a-family-expressing-a-spectrum-of-phenotypes
#20
Vanda McNiven, Yoko A Ito, Taila Hartley, Kristin Kernohan, Elka Miller, Christine M Armour
Autosomal dominant Dandy-Walker malformation and occipital cephalocele (ADDWOC) is a rare, congenital, and incompletely penetrant malformation that is considered to be part of the Dandy-Walker spectrum of disorders. Affected individuals often present with an occipital cephalocele with a bony skull defect, but typically have normal neurological development. Here, we report on a three-generation family in which individuals have variable phenotypes that are consistent with the ADDWOC spectrum: arachnoid cysts in the proband and his maternal grandfather, an occipital cephalocele in the proband and his brother, and a small bony defect in the proband's mother...
February 17, 2019: American Journal of Medical Genetics. Part A
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