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https://www.readbyqxmd.com/read/29904160/genetic-evaluation-of-cardiomyopathy-a-clinical-practice-resource-of-the-american-college-of-medical-genetics-and-genomics-acmg
#1
Ray E Hershberger, Michael M Givertz, Carolyn Y Ho, Daniel P Judge, Paul F Kantor, Kim L McBride, Ana Morales, Matthew R G Taylor, Matteo Vatta, Stephanie M Ware
PURPOSE: The purpose of this document is to provide updated guidance for the genetic evaluation of cardiomyopathy and for an approach to manage secondary findings from cardiomyopathy genes. The genetic bases of the primary cardiomyopathies (dilated, hypertrophic, arrhythmogenic right ventricular, and restrictive) have been established, and each is medically actionable; in most cases established treatments or interventions are available to improve survival, reduce morbidity, and enhance quality of life...
June 14, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29859499/prevalence-of-hereditary-cancer-susceptibility-syndromes-in-children-with-cancer-in-a-highly-consanguineous-population
#2
Wasil Jastaniah, Abdullah Aljefri, Mouhab Ayas, Musa Alharbi, Nawaf Alkhayat, Faisal Al-Anzi, Fawwaz Yassin, Fawaz Alkasim, Qasim Alharbi, Shaker Abdullah, Mohammed Burhan Abrar, Abdulrahman Alsultan
BACKGROUND & AIM: Hereditary cancer susceptibility syndromes (HCSS) are reported in up to one-third of children with cancer. Diagnosis of HCSS is crucial for implementation of surveillance protocols. We identified children who fulfilled criteria for HCSS in Saudi Arabia using the American College of Medical Genetics and Genomics (ACMG) guidelines, addressing the utility of these guidelines in a highly consanguineous population. METHODS: This multi-center cross-sectional study recruited 1858 children with cancer between January 2011 and December 2014...
May 30, 2018: Cancer Epidemiology
https://www.readbyqxmd.com/read/29801903/targeted-gene-capture-sequencing-in-diagnosis-of-dystonia-patients
#3
Jun Ma, Lin Wang, Ying-Mai Yang, Xin-Hua Wan
BACKGROUND: Dystonia is a movement disorder with high clinical and genetic heterogeneity. Molecular diagnosis is important for an accurate diagnosis of dystonia. Targeted gene capture sequencing has been an effective method for screening multiple candidate genes simultaneously. This method, however, has been rarely reported to be used with dystonia patients. OBJECTIVES AND METHODS: To assess the effectiveness of the targeted gene capture sequencing in dystonia, we performed custom target gene capture followed by next-generation sequencing in dystonia patients from China...
July 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29775997/improved-acmg-compliant-in-silico-prediction-of-pathogenicity-for-missense-substitutions-encoded-by-tp53-variants
#4
Cristina Fortuno, Paul A James, Erin L Young, Bing Feng, Magali Olivier, Tina Pesaran, Sean V Tavtigian, Amanda B Spurdle
Clinical interpretation of germline missense variants represents a major challenge, including those in the TP53 Li-Fraumeni syndrome gene. Bioinformatic prediction is a key part of variant classification strategies. We aimed to optimize the performance of the Align-GVGD tool used for p53 missense variant prediction, and compare its performance to other bioinformatic tools (SIFT, PolyPhen-2) and ensemble methods (REVEL, BayesDel). Reference sets of assumed pathogenic and assumed benign variants were defined using functional and/or clinical data...
May 18, 2018: Human Mutation
https://www.readbyqxmd.com/read/29767669/identification-of-mutations-in-patients-with-acquired-pure-red-cell-aplasia
#5
Xinchao Zhang, Yi Shi, Lingjun Song, Chang Shen, Qi Cai, Zhou Zhang, Jun Wu, Guohui Fu, Weiwei Shen
Idiopathic acquired pure red cell aplasia (PRCA) is a rare, autoimmune-related disease. This study aimed to describe the previously unidentified DNA alterations associated with PRCA. Here, next generation sequencing using a panel containing 295 critical genes was applied to detect potentially pathogenic mutations in four patients with PRCA. A total of 529 mutations were identified and further classified into three categories, namely, uncertain (n = 25), likely benign (n = 20) and benign (n = 484) mutations, based on the American College of Medical Genetics and Genomics (ACMG) 2015 guidelines and ClinVar database...
May 15, 2018: Acta Biochimica et Biophysica Sinica
https://www.readbyqxmd.com/read/29764369/vareporter-variant-reporter-for-cancer-research-of-massive-parallel-sequencing
#6
Po-Jung Huang, Chi-Ching Lee, Ling-Ya Chiu, Kuo-Yang Huang, Yuan-Ming Yeh, Chia-Yu Yang, Cheng-Hsun Chiu, Petrus Tang
BACKGROUND: High throughput sequencing technologies have been an increasingly critical aspect of precision medicine owing to a better identification of disease targets, which contributes to improved health care cost and clinical outcomes. In particular, disease-oriented targeted enrichment sequencing is becoming a widely-accepted application for diagnostic purposes, which can interrogate known diagnostic variants as well as identify novel biomarkers from panels of entire human coding exome or disease-associated genes...
May 9, 2018: BMC Genomics
https://www.readbyqxmd.com/read/29754767/preconception-carrier-screening-by-genome-sequencing-results-from-the-clinical-laboratory
#7
Sumit Punj, Yassmine Akkari, Jennifer Huang, Fei Yang, Allison Creason, Christine Pak, Amiee Potter, Michael O Dorschner, Deborah A Nickerson, Peggy D Robertson, Gail P Jarvik, Laura M Amendola, Jennifer Schleit, Dana Kostiner Simpson, Alan F Rope, Jacob Reiss, Tia Kauffman, Marian J Gilmore, Patricia Himes, Benjamin Wilfond, Katrina A B Goddard, C Sue Richards
Advances in sequencing technologies permit the analysis of a larger selection of genes for preconception carrier screening. The study was designed as a sequential carrier screen using genome sequencing to analyze 728 gene-disorder pairs for carrier and medically actionable conditions in 131 women and their partners (n = 71) who were planning a pregnancy. We report here on the clinical laboratory results from this expanded carrier screening program. Variants were filtered and classified using the latest American College of Medical Genetics and Genomics (ACMG) guideline; only pathogenic and likely pathogenic variants were confirmed by orthologous methods before being reported...
May 3, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29752989/a-novel-pathogenic-variant-in-the-marveld2-gene-causes-autosomal-recessive-non-syndromic-hearing-loss-in-an-iranian-family
#8
Afsaneh Taghipour-Sheshdeh, Fatemeh Nemati-Zargaran, Narges Zarepour, Parisa Tahmasebi, Nader Saki, Mohammad Amin Tabatabaiefar, Javad Mohammadi-Asl, Morteza Hashemzadeh-Chaleshtori
BACKGROUND AND AIMS: Hearing loss (HL) is the most common sensorineural disorder and one of the most common human defects. HL can be classified according to main criteria, including: the site (conductive, sensorineural and mixed), onset (pre-lingual and post-lingual), accompanying signs and symptoms (syndromic and non-syndromic), severity (mild, moderate, severe and profound) and mode of inheritance (Autosomal recessive, autosomal dominant, X-linked and mitochondrial). Autosomal recessive non-syndromic HL (ARNSHL) forms constitute a major share of the HL cases...
May 9, 2018: Genomics
https://www.readbyqxmd.com/read/29731767/whole-exome-sequencing-identified-a-novel-heterozygous-mutation-in-hmbs-gene-in-a-chinese-patient-with-acute-intermittent-porphyria-with-rare-type-of-mild-anemia
#9
Yongjiang Zheng, Jiehua Xu, Shengran Liang, Dongjun Lin, Santasree Banerjee
Acute intermittent porphyria (AIP) is a rare hereditary metabolic disease with an autosomal dominant mode of inheritance. Germline mutations of HMBS gene causes AIP. Mutation of HMBS gene results into the partial deficiency of the heme biosynthetic enzyme hydroxymethylbilane synthase. AIP is clinically manifested with abdominal pain, vomiting, and neurological complaints. Additionally, an extreme phenotypic heterogeneity has been reported in AIP patients with mutations in HMBS gene. Here, we investigated a Chinese patient with AIP...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29727914/germline-mutations-in-dna-repair-genes-are-associated-with-bladder-cancer-risk-and-unfavorable-prognosis
#10
Rong Na, Yishuo Wu, Guangliang Jiang, Hongjie Yu, Xiaoling Lin, Meilin Wang, Carly A Conran, Richard J Fantus, Ning Zhang, Shenghua Liu, Brian T Helfand, S Lilly Zheng, William B Isaacs, Qiang Ding, Zhoujun Shen, Jianfeng Xu
OBJECTIVES: Germline DNA repair gene mutations in bladder cancer (BCa) are poorly characterized. We therefore sought to perform a systematic evaluation of whether these mutations are associated with increased risk of BCa and aggressive disease. MATERIALS AND METHODS: Germline DNA from 98 BCa patients was analyzed for 54 DNA repair genes using a customized targeted sequencing panel. Population control data were obtained from the public databases Exome Aggregation Consortium database (ExAC) and Genome Aggregation Database (gnomAD)...
May 4, 2018: BJU International
https://www.readbyqxmd.com/read/29718797/cep250-mutations-associated-with-mild-cone-rod-dystrophy-and-sensorineural-hearing-loss-in-a-japanese-family
#11
Daiki Kubota, Kiyoko Gocho, Sachiko Kikuchi, Keiichiro Akeo, Masahiro Miura, Kunihiko Yamaki, Hiroshi Takahashi, Shuhei Kameya
BACKGROUND: CEP250 encodes the C-Nap1 protein which belongs to the CEP family of proteins. C-Nap1 has been reported to be expressed in the photoreceptor cilia and is known to interact with other ciliary proteins. Mutations of CEP250 cause atypical Usher syndrome which is characterized by early-onset sensorineural hearing loss (SNHL) and a relatively mild retinitis pigmentosa. This study tested the hypothesis that the mild cone-rod dystrophy (CRD) and SNHL in a non-consanguineous Japanese family was caused by CEP250 mutations...
May 2, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29684080/unexpected-cancer-predisposition-gene-variants-in-cowden-syndrome-and-bannayan-riley-ruvalcaba-syndrome-patients-without-underlying-germline-pten-mutations
#12
Lamis Yehia, Ying Ni, Kaitlin Sesock, Farshad Niazi, Benjamin Fletcher, Hannah Jin Lian Chen, Thomas LaFramboise, Charis Eng
Patients with heritable cancer syndromes characterized by germline PTEN mutations (termed PTEN hamartoma tumor syndrome, PHTS) benefit from PTEN-enabled cancer risk assessment and clinical management. PTEN-wildtype patients (~50%) remain at increased risk of developing certain cancers. Existence of germline mutations in other known cancer susceptibility genes has not been explored in these patients, with implications for different medical management. We conducted a 4-year multicenter prospective study of incident patients with features of Cowden/Cowden-like (CS/CS-like) and Bannayan-Riley-Ruvalcaba syndromes (BRRS) without PTEN mutations...
April 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29625023/identification-of-misclassified-clinvar-variants-via-disease-population-prevalence
#13
Naisha Shah, Ying-Chen Claire Hou, Hung-Chun Yu, Rachana Sainger, C Thomas Caskey, J Craig Venter, Amalio Telenti
There is a significant interest in the standardized classification of human genetic variants. We used whole-genome sequence data from 10,495 unrelated individuals to contrast population frequency of pathogenic variants to the expected population prevalence of the disease. Analyses included the ACMG-recommended 59 gene-condition sets for incidental findings and 463 genes associated with 265 OrphaNet conditions. A total of 25,505 variants were used to identify patterns of inflation (i.e., excess genetic risk and misclassification)...
April 5, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29606097/mucopolysaccharidosis-iiib-and-mild-skeletal-anomalies-coexistence-of-naglu-and-cyp26b1-missense-variations-in-the-same-patient-in-a-chinese-family
#14
Jinliang Li, Han Xie, Yuwu Jiang
BACKGROUND: Sanfilippo type B syndrome (mucopolysac-charidosis type IIIB; MPS IIIB) is an autosomal recessive lysosomal storage disorder. It is caused by a critically reduced α-2-acetamido-2-deoxy-D-glucoside acetamidodeoxy glucohydrolase (α-N-acetylglucosaminidase or NAGLU) activity. Recently, an autosomal recessive disorder of skeletal dysplasia associated with CYP26B1 was reported in three families, in which the patients were all homozygous variations. However, the co-occurrence of two rare diseases in a person is very rare...
April 2, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29588952/gene-panel-analysis-for-nonsyndromic-cryptogenic-neonatal-infantile-epileptic-encephalopathy
#15
Cheuk-Wing Fung, Anna Ka-Yee Kwong, Virginia Chun-Nei Wong
Objective: Epileptic encephalopathy (EE) is a heterogeneous condition associated with deteriorations of cognitive, sensory and/or motor functions as a consequence of epileptic activity. The phenomenon is the most common and severe in infancy and early childhood. Genetic-based diagnosis in EE patients is challenging owing to genetic and phenotypic heterogeneity of numerous monogenic disorders and the fact that thousands of genes are involved in neurodevelopment. Therefore, high-throughput next-generation sequencing (NGS) was used to investigate the genetic causes of non-syndromic cryptogenic neonatal/infantile EE (NIEE)...
June 2017: Epilepsia Open
https://www.readbyqxmd.com/read/29581464/whole-exome-sequencing-helps-the-diagnosis-and-treatment-in-children-with-neurodevelopmental-delay-accompanied-unexplained-dyspnea
#16
Wenjia Tong, Yajian Wang, Yun Lu, Tongsheng Ye, Conglei Song, Yuanyuan Xu, Min Li, Jie Ding, Yuanyuan Duan, Le Zhang, Weiyue Gu, Xiaoling Zhao, Xiu-An Yang, Danqun Jin
Neurodevelopmental delay accompanied unexplained dyspnea is a highly lethal disease in clinic. This study is to investigate the performance characteristics of trio whole exome sequencing (Trio-WES) in a pediatric setting by presenting our patient cohort and displaying the diagnostic yield. A total of 31 pediatric patients showing neurodevelopmental delay accompanied unexplained dyspnea were admitted to our hospital and referred for molecular genetic testing using Trio-WES. Eight genes namely MMACHC, G6PC, G6PT, ETFDH, OTC, NDUFAF5, SLC22A5, and MAGEL2 were suspected to be responsible for the onset of the clinical symptoms and 6 variants were novel...
March 26, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29567486/genetic-evaluation-of-cardiomyopathy-a-heart-failure-society-of-america-practice-guideline
#17
Ray E Hershberger, Michael M Givertz, Carolyn Y Ho, Daniel P Judge, Paul F Kantor, Kim L McBride, Ana Morales, Matthew R G Taylor, Matteo Vatta, Stephanie M Ware
This guideline describes the approach and expertise needed for the genetic evaluation of cardiomyopathy. First published in 2009 by the Heart Failure Society of America (HFSA), the guideline has now been updated in collaboration with the American College of Medical Genetics and Genomics (ACMG). The writing group, composed of cardiologists and genetics professionals with expertise in adult and pediatric cardiomyopathy, reflects the emergence and increased clinical activity devoted to cardiovascular genetic medicine...
May 2018: Journal of Cardiac Failure
https://www.readbyqxmd.com/read/29565417/pediatric-clinical-exome-genome-sequencing-and-the-engagement-process-encouraging-active-conversation-with-the-older-child-and-adolescent-points-to-consider-a-statement-of-the-american-college-of-medical-genetics-and-genomics-acmg
#18
Lynn W Bush, Louis E Bartoshesky, Karen L David, Benjamin Wilfond, Janet L Williams, Ingrid A Holm
Disclaimer: This article is designed primarily as an educational resource for medical geneticists and other health care providers to help them provide quality patient care. Adherence to the information contained in this article does not necessarily assure a successful medical outcome. This information and any associated recommendations should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, each provider should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient...
March 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29543229/the-acmg-amp-reputable-source-criteria-for-the-interpretation-of-sequence-variants
#19
Leslie G Biesecker, Steven M Harrison
No abstract text is available yet for this article.
March 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29543224/laboratory-analysis-of-organic-acids-2018-update-a-technical-standard-of-the-american-college-of-medical-genetics-and-genomics-acmg
#20
Renata C Gallagher, Laura Pollard, Anna I Scott, Suzette Huguenin, Stephen Goodman, Qin Sun
Disclaimer: These ACMG Standards are intended as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these Standards is voluntary and does not necessarily assure a successful medical outcome. These Standards should not be considered inclusive of all proper procedures and tests, or exclusive of others that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, clinical laboratory geneticists should apply their professional judgment to the specific circumstances presented by the patient or specimen...
March 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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