Molecular Genetics Analysis of 70 Chinese Families With Muscular Dystrophy Using Multiplex Ligation-Dependent Probe Amplification and Next-Generation Sequencing by Dong Wang, Min Gao, Kaihui Zhang, Ruifeng Jin, Yuqiang Lv, Yong Liu, Jian Ma, Ya Wan, Zhongtao Gai, Yi Liu

“…All the novel mutations were analyzed and predicted as pathogenic according to American College of Medical Genetics and Genomics (ACMG) guideline. …”
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Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: a survey of dietitians’ current practices by Nataliya Yuskiv, Beth K. Potter, Sylvia Stockler, Keiko Ueda, Alette Giezen, Barbara Cheng, Erica Langley, Suzanne Ratko, Valerie Austin, Maggie Chapman, Pranesh Chakraborty, Jean Paul Collet, Amy Pender, In collaboration with the Canadian Inherited Metabolic Diseases Research Network (CIMDRN)

“…Conclusion While Canadian dietitians’ practices in managing pediatric PAH deficiency are generally aligned with those of the American College of Medical Genetics and Genomics (ACMG), and with the associated treatment and nutritional guidelines from Genetic Metabolic Dietitians International (GMDI), variation in many aspects of care reflects ongoing uncertainty and a need for robust evidence.…”
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Novel Variants in the <i>CLCN1</i>, <i>RYR2</i>, and <i>DCTN1</i> Found in Elderly Japanese Dementia Patients: A Case Series by Atsushi Hori, Tomohiko Ai, Miwa Isshiki, Yumiko Motoi, Kouji Yano, Yoko Tabe, Nobutaka Hattori, Takashi Miida

“…The detected variants were interpreted according to the American College of Medical Genetics (ACMG) guidelines. The minor allele frequency for each variant was 0.025%, 0.023%, and 0.0004% in East Asians, respectively. …”
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The genetic and clinical characteristics of WFS1 related diabetes in Chinese early onset type 2 diabetes by Yating Li, Siqian Gong, Meng Li, Xiaoling Cai, Wei Liu, Simin Zhang, Yumin Ma, Yingying Luo, Lingli Zhou, Xiuying Zhang, Xiuting Huang, Xueying Gao, Mengdie Hu, Yufeng Li, Qian Ren, Yanai Wang, Xianghai Zhou, Xueyao Han, Linong Ji

“…Pathogenicity was defined according to the standards and guidelines of the American College of Medical Genetics and Genomics. We identified 33 rare variants predicted to be deleterious in 39 patients. …”
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Profiling Oncogenic Germline Mutations in Unselected Chinese Lung Cancer Patients by Jie Yang, Hefei Li, Ben Li, Wei Li, Qiang Guo, Ling Hu, Zizheng Song, Bin Zhou

“…Likely pathogenic/pathogenic (LP/P) variants were called according to the classification criteria of the American College of Medical Genetics and Genomics. Variants of uncertain significance (VUS) located in the kinase domains of driver genes and occurring recurrently (n ≥3) were also included for further analyses.ResultsSeven different LP/P variants in EGFR, MET, or RET were identified in 0.03% of lung cancer patients (n = 14) and 25 different VUS in the kinase domains of seven driver genes (except KRAS) were found with a prevalence of 0.3% (n = 117).Collectively, germline mutations were most frequently seen in ROS1 (n = 31, 0.084%), followed by MET (n = 23, 0.062%), EGFR (n = 22, 0.06%), ALK (n = 22, 0.06%) and RET (n = 17, 0.046%). …”
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Targeted next generation sequencing identifies a genetic spectrum of DNA variants in patients with hemiplegic migraine by Neven Maksemous, Robert A Smith, Heidi G Sutherland, Bridget H Maher, Omar Ibrahim, Garth A Nicholson, Elisabeth P Carpenter, Rod A Lea, M Zameel Cader, Lyn R Griffiths

“…Assessment of variants with the American College of Medical Genetics and Genomics guidelines classified 8 variants as pathogenic, 3 as likely pathogenic and 18 as variants of unknown significance. …”
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Landscape of Secondary Findings in Chinese Population: A Practice of ACMG SF v3.0 List by Yingzhao Huang, Bowen Liu, Jile Shi, Sen Zhao, Kexin Xu, Liying Sun, Na Chen, Wen Tian, Jianguo Zhang, Nan Wu

“…CES can unravel secondary findings (SFs) unrelated to the primary diagnosis but with potential health implications. The American College of Medical Genetics and Genomics (ACMG) has published a guideline for reporting secondary findings and recently updated an ACMG SF v3.0 list comprising 73 genes. …”
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A Novel <i>CDH1</i> Variant Identified in a Chinese Family with Blepharocheilodontic Syndrome by Bichen Lin, Yang Liu, Lanxin Su, Hangbo Liu, Hailan Feng, Miao Yu, Haochen Liu

“…According to ReVe, REVEL, CADD, gnomAD, dbSNP, and the classification of pathogenic variants with the standards of the 2015 American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG), c.1198G>A (p.Asp400Asn) is predicted to be a likely pathogenic. …”
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Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study by Eden V. Haverfield, Edward D. Esplin, Sienna J. Aguilar, Kathryn E. Hatchell, Kelly E. Ormond, Andrea Hanson-Kahn, Paldeep S. Atwal, Sarah Macklin-Mantia, Stephanie Hines, Caron W.-M. Sak, Steven Tucker, Steven B. Bleyl, Peter J. Hulick, Ora K. Gordon, Lea Velsher, Jessica Y. J. Gu, Scott M. Weissman, Teresa Kruisselbrink, Christopher Abel, Michele Kettles, Anne Slavotinek, Bryce A. Mendelsohn, Robert C. Green, Swaroop Aradhya, Robert L. Nussbaum

“…Professional practice guidelines from the American College of Medical Genetics and Genomics (ACMG) have encouraged reporting pathogenic variants that confer personal risk for actionable monogenic hereditary disorders, but only as secondary findings from exome or genome sequencing. …”
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Secondary findings in 421 whole exome-sequenced Chinese children by Wen Chen, Wenke Li, Yi Ma, Yujing Zhang, Bianmei Han, Xuewen Liu, Kun Zhao, Meixian Zhang, Jie Mi, Yuanyuan Fu, Zhou Zhou

“…A reference gene list was defined according to the American College of Medical Genetics and Genomics (ACMG) recommendations for reporting secondary findings v2.0 (ACMG SF v2.0). …”
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Identification of a Novel Pathogenic Rearrangement Variant of the APC Gene Associated with a Variable Spectrum of Familial Cancer by María Lourdes Garza-Rodríguez, Víctor Treviño, Antonio Alí Pérez-Maya, Hazyadee Frecia Rodríguez-Gutiérrez, Moisés González-Escamilla, Miguel Ángel Elizondo-Riojas, Genaro A. Ramírez-Correa, Oscar Vidal-Gutiérrez, Carlos Horacio Burciaga-Flores, Diana Cristina Pérez-Ibave

“…According to the American College of Medical Genetics (ACMG) guidelines, this novel variant is considered a PVS1 variant (very strong evidence of pathogenicity), and it can be useful in association with clinical data for early surveillance and suitable treatment.…”
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Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18. by Eugenia Fraile-Bethencourt, Beatriz Díez-Gómez, Valeria Velásquez-Zapata, Alberto Acedo, David J Sanz, Eladio A Velasco

“…According to the guidelines of the American College of Medical Genetics and Genomics (ACMG), 20 variants could be classified as pathogenic (c.7806-2A>G, c.7806-1G>A, c.7806-1G>T, c.7806-1_7806-2dup, c.7976+1G>A, c.7977-3_7978del, c.7977-2A>T, c.7977-1G>T, c.7977-1G>C, c.8009C>A, c.8331+1G>T and c.8331+2T>C) or likely pathogenic (c.7806-9T>G, c.7976G>C, c.7976G>A, c.7977-7C>G, c.7985C>G, c.8023A>G, c.8035G>T and c.8331G>A), accounting for 30.8% of all pathogenic/likely pathogenic variants of exons 17-18 at the BRCA Share database. …”
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Real-World Evaluation of a Population Germline Genetic Screening Initiative for Family Medicine Patients by Megan Leigh Hutchcraft, Shulin Zhang, Nan Lin, Ginny Lee Gottschalk, James W. Keck, Elizabeth A. Belcher, Catherine Sears, Chi Wang, Kun Liu, Lauren E. Dietz, Justine C. Pickarski, Sainan Wei, Roberto Cardarelli, Robert S. DiPaola, Jill M. Kolesar

“…The study identified pathogenic or likely pathogenic genetic variants—classified according to the American College of Medical Genetics and Genomics variant classification guidelines—and actionable pharmacogenomic variants, as defined by the Clinical Pharmacogenetics Implementation Consortium. …”
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Disease-Causing <i>TIMP3</i> Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation by Andrea Vergaro, Monika Pankievic, Jana Jedlickova, Lubica Dudakova, Marie Vajter, Michel Michaelides, Martin Meliska, Pavel Nemec, Daniela Babincova, Bohdan Kousal, Petra Liskova

“…All the previously reported <i>TIMP3</i> variants were reviewed using the American College of Medical Genetics and the Association for Molecular Pathology interpretation framework. …”
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Genetic insights: High germline variant rate in an indigenous African cohort with early-onset colorectal cancer by Safiye Yildiz, Takudzwa N. Musarurwa, Ursula Algar, Ramadhani Chambuso, George Rebello, Paul A. Goldberg, Raj Ramesar

“…Variant calling and annotation were performed, and variants were classified according to the American College of Medical Genetics and Genomics guidelines. Observed variants were verified by Sanger sequencing and/or long-range PCR.ResultsOut of 107 patients, 25 (23.4%) presented with a pathogenic/likely pathogenic germline variant (PGV). …”
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Novel heterozygous truncating titin variants affecting the A‐band are associated with cardiomyopathy and myopathy/muscular dystrophy by Kelly A. Rich, Tia Moscarello, Carly Siskind, Guy Brock, Christopher A. Tan, Matteo Vatta, Thomas L. Winder, Bakri Elsheikh, Leah Vicini, Brianna Tucker, Marilly Palettas, Ray E. Hershberger, John T. Kissel, Ana Morales, Jennifer Roggenbuck

“…Variants were identified via clinical genetic testing and reviewed according to the American College of Medical Genetics criteria. Clinical and family history data were documented via retrospective chart review. …”
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Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next‐generation sequencing of the SLC26A4 gene by Yongan Tian, Hongen Xu, Danhua Liu, Juanli Zhang, Zengguang Yang, Sen Zhang, Huanfei Liu, Ruijun Li, Yingtao Tian, Beiping Zeng, Tong Li, Qianyu Lin, Haili Wang, Xiaohua Li, Wei Lu, Ying Shi, Yan Zhang, Hui Zhang, Chang Jiang, Ying Xu, Bei Chen, Jun Liu, Wenxue Tang

“…A total of 112 hearing loss families with EVA were enrolled and the pathogenicity of the rare variants detected was interpreted according to the American College of Medical Genetics and Genomics (ACMG) guidelines. …”
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Role of Genetics in Diagnosis and Management of Hypertrophic Cardiomyopathy: A Glimpse into the Future by Mohammed Tiseer Abbas, Nima Baba Ali, Juan M. Farina, Ahmed K. Mahmoud, Milagros Pereyra, Isabel G. Scalia, Moaz A. Kamel, Timothy Barry, Steven J. Lester, Charles R. Cannan, Rohit Mital, Susan Wilansky, William K. Freeman, Chieh-Ju Chao, Said Alsidawi, Chadi Ayoub, Reza Arsanjani

“…Therefore, in 2015 the American College of Medical Genetics and Genomics (ACMG) established guidelines to classify and interpret the variants with an emphasis on the necessity of periodic reassessment of variant classification as genetic knowledge rapidly expands. …”
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Four different gene-related cone–rod dystrophy: clinical and genetic findings in six Chinese families with diverse modes of inheritance by Zhen Li, Wanyu Cheng, Feiyin Zi, Juan Wang, Xiaoyu Huang, Xunlun Sheng, Weining Rong

“…The pathogenicity of novel variants was predicted using in silico analysis and evaluated according to the American College of Medical Genetics and Genomics (ACMG) guidelines.Results: Of the six families, two families were assigned as X-linked recessive (XL), two families were assigned as autosomal recessive (AR), and two families were assigned as autosomal dominant (AD). …”
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Case Report: A novel IRF2BP2 mutation in an IEI patient with recurrent infections and autoimmune disorders by Yiwen Pan, Guoguo Shang, Jing Li, Yuwen Zhang, Jianying Liu, Yuan Ji, Jing Ding, Jing Ding, Xin Wang, Xin Wang

“…The mutation was classified as variant of uncertain significance (VUS) according to the American College of Medical Genetics and Genomics guidelines.ConclusionWe identified a novel IRF2BP2 mutation in a family with a member diagnosed with IEI. …”
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