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https://www.readbyqxmd.com/read/29054114/characterization-of-melanosomes-and-melanin-in-japanese-patients-with-hermansky-pudlak-syndrome-types-1-4-6-and-9
#1
Ken Okamura, Yuko Abe, Yuta Araki, Kazumasa Wakamatsu, Mariko Seishima, Takafumi Umetsu, Atsushi Kato, Masakazu Kawaguchi, Masahiro Hayashi, Yutaka Hozumi, Tamio Suzuki
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism (OCA), a bleeding tendency and ceroid deposition. Most of the causative genes for HPS encode subunits of the biogenesis of lysosome-related organelles complex (BLOC). In this study, we identified one patient each with HPS4, HPS6 and HPS9 by whole-exome sequencing. Next, we analyzed hair samples from the three patients and representative patients with HPS1 and controls using electron microscopy and chemical methods...
October 20, 2017: Pigment Cell & Melanoma Research
https://www.readbyqxmd.com/read/29053821/a-null-mutation-in-micu2-causes-abnormal-mitochondrial-calcium-homeostasis-and-a-severe-neurodevelopmental-disorder
#2
Hanan E Shamseldin, Ali Alasmari, Mohammed A Salih, Manar M Samman, Shahid A Mian, Tarfa Alshidi, Niema Ibrahim, Mais Hashem, Eissa Faqeih, Futwan Al-Mohanna, Fowzan S Alkuraya
Mitochondrial calcium homeostasis is a tightly controlled process that is required for a variety of cellular functions. The mitochondrial calcium uniporter complex plays a critical role in this process. MICU2 is a major component of the mitochondrial calcium uniporter complex and its deficiency has been shown to impair mitochondrial calcium [Ca2+]m homeostasis although the exact mechanism remains unclear. We used exome sequencing, positional mapping, and functional characterization of MICU2 deficiency to investigate the role of MICU2 in calcium homeostasis...
September 25, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29053796/exome-sequencing-and-network-analysis-identifies-shared-mechanisms-underlying-spinocerebellar-ataxia
#3
Esther A R Nibbeling, Anna Duarri, Corien C Verschuuren-Bemelmans, Michiel R Fokkens, Juha M Karjalainen, Cleo J L M Smeets, Jelkje J de Boer-Bergsma, Gerben van der Vries, Dennis Dooijes, Giovana B Bampi, Cleo van Diemen, Ewout Brunt, Elly Ippel, Berry Kremer, Monique Vlak, Noam Adir, Cisca Wijmenga, Bart P C van de Warrenburg, Lude Franke, Richard J Sinke, Dineke S Verbeek
The autosomal dominant cerebellar ataxias, referred to as spinocerebellar ataxias in genetic nomenclature, are a rare group of progressive neurodegenerative disorders characterized by loss of balance and coordination. Despite the identification of numerous disease genes, a substantial number of cases still remain without a genetic diagnosis. Here, we report five novel spinocerebellar ataxia genes, FAT2, PLD3, KIF26B, EP300, and FAT1, identified through a combination of exome sequencing in genetically undiagnosed families and targeted resequencing of exome candidates in a cohort of singletons...
October 6, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29053637/progress-in-genetic-studies-of-tourette-s-syndrome
#4
REVIEW
Yanjie Qi, Yi Zheng, Zhanjiang Li, Lan Xiong
Tourette's Syndrome (TS) is a complex disorder characterized by repetitive, sudden, and involuntary movements or vocalizations, called tics. Tics usually appear in childhood, and their severity varies over time. In addition to frequent tics, people with TS are at risk for associated problems including attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), anxiety, depression, and problems with sleep. TS occurs in most populations and ethnic groups worldwide, and it is more common in males than in females...
October 20, 2017: Brain Sciences
https://www.readbyqxmd.com/read/29051910/cednik-phenotypic-and-molecular-characterization-of-an-additional-patient-and-review-of-the-literature
#5
Tina Hsu, Carrie C Coughlin, Kristin G Monaghan, Elise Fiala, Robert C McKinstry, Alex R Paciorkowski, Marwan Shinawi
Synaptosomal-associated protein 29 (SNAP29) is a t-SNARE protein that is implicated in intracellular vesicle fusion. Mutations in the SNAP29 gene have been associated with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome (CEDNIK). In patients with 22q11.2 deletion syndrome, mutations in SNAP29 on the nondeleted chromosome are linked to similar ichthyotic and neurological phenotypes. Here, the authors report a patient with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome who presented with global developmental delay, polymicrogyria, dysgenesis of the corpus callosum, optic nerve dysplasia, gaze apraxia, and dysmorphic features...
January 2017: Child neurology open
https://www.readbyqxmd.com/read/29051577/de-novo-mutations-of-tuba3d-are-associated-with-keratoconus
#6
Xiao-Dan Hao, Peng Chen, Yang-Yang Zhang, Su-Xia Li, Wei-Yun Shi, Hua Gao
Keratoconus (KC) is a common degenerative corneal disease, and heredity plays a key role in its development. Although few genes are known to cause KC, a large proportion of disease-causing genes remain to be revealed. Here, we report the identification of TUBA3D as a novel gene linked to KC. Using whole-exome sequencing of a twins pedigree, a novel de novo mutation (c.31 C > T, p.Gln11stop) in TUBA3D gene was identified. A screening performed in 200 additional unrelated patients with KC revealed another two mutations (c...
October 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29050228/mutation-landscape-and-intra-tumor-heterogeneity-of-two-manecs-of-the-esophagus-revealed-by-multi-region-sequencing
#7
Wenqing Yuan, Zhen Liu, Wanjun Lei, Li Sun, Haijun Yang, Yu Wang, Shweta Ramdas, Xiao Dong, Ruiping Xu, Hong Cai, Jun Z Li, Yang Ke
Mixed adenoneuroendocrine carcinoma (MANEC) in the esophagus is an infrequent but highly malignant cancer with few known genomic alterations. We conducted whole-exome sequencing and whole-genome SNP genotyping for 4-6 tumor subregions and 5-6 adjacent normal tissue sites and 1-3 lymph node metastases in two esophageal MANECs to detect somatic mutations and copy number alterations, and to explore their spatial heterogeneity and underlying clonal structure. TP53 mutation, RB1 deletion or LOH, and PIK3CA, PTEN, KRAS, SOX2, DVL3, TP63 amplification appeared in all regions in both tumors...
September 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/29049852/parental-experiences-of-prenatal-whole-exome-sequencing-wes-in-cases-of-ultrasound-diagnosed-fetal-structural-anomaly
#8
Elizabeth Quinlan-Jones, Sarah C Hillman, Mark D Kilby, Sheila M Greenfield
OBJECTIVE: To explore parental experiences of WES for prenatal diagnosis, and ascertain what influenced their decision-making to undergo testing. METHOD: Twelve women comprised a purposeful sample in a series of semi-structured interviews. All had received a fetal anomaly diagnosis on ultrasound. A topic guide was used, and transcripts were thematically analysed to elicit key themes. RESULTS: Five main themes (parental experiences of prenatal WES, need for information, consent/reasons for prenatal WES, sources of support for prenatal WES, and return of WES findings to families) emerged, some with multiple sub-themes...
October 19, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29049801/search-for-genetic-factors-in-bicuspid-aortic-valve-disease-acta2-mutations-do-not-play-a-major-role
#9
Giada Tortora, Anita Wischmeijer, Paolo Berretta, Jacopo Alfonsi, Luca Di Marco, Andrea Barbieri, Caterina Marconi, Federica Isidori, Cesare Rossi, Ornella Leone, Roberto Di Bartolomeo, Marco Seri, Davide Pacini
OBJECTIVES: Mutations in ACTA2 have been reported as a cause of familiar thoracic aortic aneurysm (TAA) with associated bicuspid aortic valve (BAV) in some individuals. Our aim is to investigate the role of ACTA2 mutations in BAV associated with TAA in 20 patients. METHODS: We recruited 20 patients who underwent surgery for BAV and TAA; clinical genetic evaluation and ACTA2 mutation analysis were performed on each patient, along with next-generation sequencing analysis of BAV-related genes...
July 27, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/29048532/lightning-fast-genome-variant-detection-with-grom
#10
Sean D Smith, Joseph K Kawash, Andrey Grigoriev
Background: Current human whole genome sequencing projects produce massive amounts of data, often creating significant computational challenges. Different approaches have been developed for each type of genome variant and method of its detection, necessitating users to run multiple algorithms to find variants. Results: We present GROM (Genome Rearrangement OmniMapper), a novel comprehensive variant detection algorithm accepting aligned read files as input and finding SNVs, indels, structural variants (SVs), and copy number variants (CNVs)...
September 18, 2017: GigaScience
https://www.readbyqxmd.com/read/29046692/a-patient-with-van-maldergem-syndrome-with-endocrine-abnormalities-hypogonadotropic-hypogonadism-and-breast-aplasia-hypoplasia
#11
Juan Sotos, Katherine Miller, Donald Corsmeier, Naomi Tokar, Benjamin Kelly, Vijay Nadella, Huachun Zhong, Amy Wetzel, Brent Adler, Chack-Yung Yu, Peter White
BACKGROUND: We report a female patient with endocrine abnormalities, hypogonadotropic hypogonadism and amazia (breasts aplasia/hypoplasia but normal nipples and areolas) in a rare syndrome: Van Maldergem syndrome (VMS). CASE PRESENTATION: Our patient was first evaluated at age 4 for intellectual disability, craniofacial features, and auditory malformations. At age 15, she presented with no breast development and other findings consistent with hypogonadotropic hypogonadism...
2017: International Journal of Pediatric Endocrinology
https://www.readbyqxmd.com/read/29046434/aristolochic-acids-and-their-derivatives-are-widely-implicated-in-liver-cancers-in-taiwan-and-throughout-asia
#12
Alvin W T Ng, Song Ling Poon, Mi Ni Huang, Jing Quan Lim, Arnoud Boot, Willie Yu, Yuka Suzuki, Saranya Thangaraju, Cedric C Y Ng, Patrick Tan, See-Tong Pang, Hao-Yi Huang, Ming-Chin Yu, Po-Huang Lee, Sen-Yung Hsieh, Alex Y Chang, Bin T Teh, Steven G Rozen
Many traditional pharmacopeias include Aristolochia and related plants, which contain nephrotoxins and mutagens in the form of aristolochic acids and similar compounds (collectively, AA). AA is implicated in multiple cancer types, sometimes with very high mutational burdens, especially in upper tract urothelial cancers (UTUCs). AA-associated kidney failure and UTUCs are prevalent in Taiwan, but AA's role in hepatocellular carcinomas (HCCs) there remains unexplored. Therefore, we sequenced the whole exomes of 98 HCCs from two hospitals in Taiwan and found that 78% showed the distinctive mutational signature of AA exposure, accounting for most of the nonsilent mutations in known cancer driver genes...
October 18, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/29045504/molecular-tumor-boards-current-practice-and-future-needs
#13
D L van der Velden, C M L van Herpen, H W M van Laarhoven, E F Smit, H J M Groen, S M Willems, P M Nederlof, M H G Langenberg, E Cuppen, S Sleijfer, N Steeghs, E E Voest
Background: due to rapid technical advances, steeply declining sequencing costs, and the ever-increasing number of targeted therapies, it can be expected that extensive tumor sequencing such as Whole Exome- and -Genome Sequencing will soon be applied in standard care. Clinicians will thus be confronted with increasingly complex genetic information and multiple test-platforms to choose from. General medical training, meanwhile, can hardly keep up with the pace of innovation. Consequently, there is a rapidly growing gap between clinical knowledge and genetic potential in cancer care...
September 27, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/29045167/identification-of-a-novel-de-novo-heterozygous-deletion-in-the-sox10-gene-in-waardenburg-syndrome-type-ii-using-next-generation-sequencing
#14
Haonan Li, Peng Jin, Qian Hao, Wei Zhu, Xia Chen, Ping Wang
OBJECTIVES: Waardenburg syndrome (WS) is a rare autosomal dominant disorder associated with pigmentation abnormalities and sensorineural hearing loss. In this study, we investigated the genetic cause of WSII in a patient and evaluated the reliability of the targeted next-generation exome sequencing method for the genetic diagnosis of WS. METHODS: Clinical evaluations were conducted on the patient and targeted next-generation sequencing (NGS) was used to identify the candidate genes responsible for WSII...
October 18, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/29044863/identification-of-somatic-genetic-alterations-in-ovarian-clear-cell-carcinoma-with-next-generation-sequencing
#15
Yusuke Shibuya, Hideki Tokunaga, Sakae Saito, Kazurou Shimokawa, Fumiki Katsuoka, Li Bin, Kaname Kojima, Masao Nagasaki, Masayuki Yamamoto, Nobuo Yaegashi, Jun Yasuda
Ovarian clear cell carcinoma (OCCC) is the most refractory subtype of ovarian cancer and more prevalent in Japanese than Caucasians (25% and 5% of all ovarian cancer, respectively). The aim of this study is to discover the genomic alterations that may cause OCCC and effective molecular targets for chemotherapy. Paired genomic DNAs of 48 OCCC tissues and corresponding non-cancerous tissues were extracted from formalin-fixed, paraffin embedded specimens collected between 2007 and 2015 at Tohoku University Hospital...
October 16, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/29044765/a-novel-inborn-error-of-the-coenzyme-q10-biosynthesis-pathway-cerebellar-ataxia-and-static-encephalomyopathy-due-to-coq5-c-methyltransferase-deficiency
#16
May Christine V Malicdan, Thierry Vilboux, Bruria Ben-Zeev, Jennifer Guo, Aviva Eliyahu, Ben Pode-Shakked, Amir Dori, Sravan Kakani, Settara C Chandrasekharappa, Carlos Ferreira, Natalia Shelestovich, Dina Marek-Yagel, Hadass Pri-Chen, Ilan Blatt, John E Niederhuber, Langping He, Camilo Toro, Robert W Taylor, John Deeken, Tal Yardeni, Douglas C Wallace, William A Gahl, Yair Anikster
Primary coenzyme Q10 (CoQ10 ; MIM# 607426) deficiencies are an emerging group of inherited mitochondrial disorders with heterogonous clinical phenotypes. Over a dozen genes are involved in the biosynthesis of CoQ10 , and mutations in several of these are associated with human disease. However, mutations in COQ5 (MIM# 616359), catalyzing the only C-methylation in the CoQ10 synthetic pathway, have not been implicated in human disease. Here, we report three female siblings of Iraqi-Jewish descent, who had varying degrees of cerebellar ataxia, encephalopathy, generalized tonic-clonic seizures and cognitive disability...
October 16, 2017: Human Mutation
https://www.readbyqxmd.com/read/29044474/exome-sequencing-identifies-a-novel-nonsense-mutation-of-myo6-as-the-cause-of-deafness-in-a-brazilian-family
#17
Juliana Sampaio-Silva, Ana Carla Batissoco, Rafaela Jesus-Santos, Osório Abath-Neto, Luciano Cesar Scarpelli, Patricia Yoshie Nishimura, Layla Testa Galindo, Ricardo Ferreira Bento, Jeanne Oiticica, Karina Lezirovitz
We investigated 313 unrelated subjects who presented with hearing loss to identify the novel genetic causes of this condition in Brazil. Causative GJB2/GJB6 mutations were found in 12.7% of the patients. Among the familial cases (100/313), four were selected for exome sequencing. In one case, two novel heterozygous variants were found and were predicted to be pathogenic based on bioinformatics tools, that is, p.Ser906* (MYO6) and p.Arg42Cys (GJB3). We confirmed that this nonsense MYO6 mutation segregated with deafness in this family...
October 17, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/29044471/analysis-and-annotation-of-whole-genome-or-whole-exome-sequencing-derived-variants-for-clinical-diagnosis
#18
Elizabeth A Worthey
Over the last 10 years, next-generation sequencing (NGS) has transformed genomic research through substantial advances in technology and reduction in the cost of sequencing, and also in the systems required for analysis of these large volumes of data. This technology is now being used as a standard molecular diagnostic test in some clinical settings. The advances in sequencing have come so rapidly that the major bottleneck in identification of causal variants is no longer the sequencing or analysis (given access to appropriate tools), but rather clinical interpretation...
October 18, 2017: Current Protocols in Human Genetics
https://www.readbyqxmd.com/read/29044180/evaluating-phenotype-driven-approaches-for-genetic-diagnoses-from-exomes-in-a-clinical-setting
#19
Reuben J Pengelly, Thahmina Alom, Zijian Zhang, David Hunt, Sarah Ennis, Andrew Collins
Next generation sequencing is transforming clinical medicine and genome research, providing a powerful route to establishing molecular diagnoses for genetic conditions; however, challenges remain given the volume and complexity of genetic variation. A number of methods integrate patient phenotype and genotypic data to prioritise variants as potentially causal. Some methods have a clinical focus while others are more research-oriented. With clinical applications in mind we compare results from alternative methods using 21 exomes for which the disease causal variant has been previously established through traditional clinical evaluation...
October 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29043143/focal-segmental-glomerulosclerosis-associated-with-mitochondrial-disease
#20
Kenneth Lim, David Steele, Andrew Fenves, Ravi Thadhani, Eliot Heher, Amel Karaa
Primary mitochondrial diseases (MD) are complex, heterogeneous inherited diseases caused by mutations in either the mitochondrial or nuclear DNA. Glomerular diseases in MD have been reported with tRNA mutation m.3243A>G causing a syndrome of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). We describe here a case of focal segmental glomerulosclerosis (FSGS) associated with a new tRNA mutation site. A 34-year-old man with a history of living related kidney transplantation, diabetes, hearing loss, and developmental delay presented to the outpatient clinic with complaints of new behavioral difficulties, worsening symptoms, and brain involvement on imaging...
2017: Clin Nephrol Case Stud
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