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https://www.readbyqxmd.com/read/29029073/clinical-genetics-and-outcome-of-left-ventricular-non-compaction-cardiomyopathy
#1
Farbod Sedaghat-Hamedani, Jan Haas, Feng Zhu, Christian Geier, Elham Kayvanpour, Martin Liss, Alan Lai, Karen Frese, Regina Pribe-Wolferts, Ali Amr, Daniel Tian Li, Omid Shirvani Samani, Avisha Carstensen, Diana Martins Bordalo, Marion Müller, Christine Fischer, Jing Shao, Jing Wang, Ming Nie, Li Yuan, Sabine Haßfeld, Christine Schwartz, Min Zhou, Zihua Zhou, Yanwen Shu, Min Wang, Kai Huang, Qiutang Zeng, Longxian Cheng, Tobias Fehlmann, Philipp Ehlermann, Andreas Keller, Christoph Dieterich, Katrin Streckfuß-Bömeke, Yuhua Liao, Michael Gotthardt, Hugo A Katus, Benjamin Meder
Aims: In this study, we aimed to clinically and genetically characterize LVNC patients and investigate the prevalence of variants in known and novel LVNC disease genes. Introduction: Left ventricular non-compaction cardiomyopathy (LVNC) is an increasingly recognized cause of heart failure, arrhythmia, thromboembolism, and sudden cardiac death. We sought here to dissect its genetic causes, phenotypic presentation and outcome. Methods and results: In our registry with follow-up of in the median 61 months, we analysed 95 LVNC patients (68 unrelated index patients and 27 affected relatives; definite familial LVNC = 23...
October 6, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28950901/compound-heterozygous-mutations-in-electron-transfer-flavoprotein-dehydrogenase-identified-in-a-young-chinese-woman-with-late-onset-glutaric-aciduria-type-ii
#2
Ying Xue, Yun Zhou, Keqin Zhang, Ling Li, Abudurexiti Kayoumu, Liye Chen, Yuhui Wang, Zhiqiang Lu
BACKGROUND: Glutaric aciduria type II (GA II) is an autosomal recessive disorder affecting fatty acid and amino acid metabolism. The late-onset form of GA II disorder is almost exclusively associated with mutations in the electron transfer flavoprotein dehydrogenase (ETFDH) gene. Till now, the clinical features of late-onset GA II vary widely and pose a great challenge for diagnosis. The aim of the current study is to characterize the clinical phenotypes and genetic basis of a late-onset GAII patient...
September 26, 2017: Lipids in Health and Disease
https://www.readbyqxmd.com/read/28946813/nationwide-french-study-of-ret-variants-detected-from-2003-to-2013-suggests-a-possible-influence-of-polymorphisms-as-modifiers
#3
Maylis Lebeault, Stéphane Pinson, Marine Guillaud-Bataille, Anne-Paule Gimenez-Roqueplo, Alain Carrie, Véronique D Barbu, Pascal Pigny, Stephane Bezieau, Jean Marc Rey, Chantal Delvincourt, Sophie Giraud, Charlotte Veyrat Durebex, Patrick Saulnier, Nathalie Bouzamondo, Marie Chabbert, Julien Blin, Amira Mohamed, PAuline Romanet, Francoise Borson-Chazot, Vincent Rohmer, Anne Barlier, Mirebeau-Prunier Delphine
BACKGROUND: The presence of single nucleotide polymorphisms (SNPs) in the RET (REarranged during Transfection) gene has been investigated with regard to their potential role in the development or progression of medullary thyroid cancer (MTC) or pheochromocytomas (PHEO) in patients with the multiple endocrine neoplasia type 2 (MEN2) syndrome. The aim of this study was to evaluate the spectrum of RET variants in France between 2003 and 2013, and an evaluation of the impact of SNPs on the MEN2 A phenotype...
September 25, 2017: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/28944235/assessing-risk-for-mendelian-disorders-in-a-bronx-population
#4
Guy diSibio, Kinnari Upadhyay, Philip Meyer, Carole Oddoux, Harry Ostrer
BACKGROUND: To identify variants likely responsible for Mendelian disorders among the three major ethnic groups in the Bronx that might be useful to include in genetic screening panels or whole exome sequencing filters and to estimate their likely prevalence in these populations. METHODS: Variants from a high-density oligonucleotide screen of 192 members from each of the three ethnic-national populations (African Americans, Puerto Ricans, and Dominicans) were evaluated for overlap with next generation sequencing data...
September 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28903413/a-novel-heterozygous-germline-deletion-in-msh2-gene-in-a-five-generation-chinese-family-with-lynch-syndrome
#5
Bin Wu, Wuyang Ji, Shengran Liang, Chao Ling, Yan You, Lai Xu, Min-Er Zhong, Yi Xiao, Hui-Zhong Qiu, Jun-Yang Lu, Santasree Banerjee
Lynch syndrome (LS) is one of the most common familial forms of colorectal cancer predisposing syndrome with an autosomal dominant mode of inheritance. LS is caused by the germline mutations in DNA mismatch repair (MMR) genes including MSH2, MLH1, MSH6 and PMS2. Clinically, LS is characterized by high incidence of early-onset colorectal cancer as well as endometrial, small intestinal and urinary tract cancers, usually occur in the third to fourth decade of the life. Here we describe a five generation Chinese family with LS clinically diagnosed according to the Amsterdam II criteria...
August 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28867359/novel-heterozygous-notch3-pathogenic-variant-found-in-two-chinese-patients-with-cadasil
#6
Shufeng Li, Yifan Chen, Haitao Shan, Fang Ma, Minke Shi, Jun Xue
NOTCH3 mutations have been described to cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Here, we report 2 CADASIL patients from a Chinese family. Whole genome sequencing was performed on the two CADASIL patients. The novel variant c.128G>C in exon 2 of NOTCH3 was identified and confirmed through PCR-Sanger sequencing (Human Genome Variation Society nomenclature: HGVS: NOTCH3 c.128G>C; p.Cys43Ser). The heterozygous NOTCH3 variant cause a cysteine to serine substitution at codon 43...
August 31, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28782058/consistency-of-brca1-and-brca2-variant-classifications-among-clinical-diagnostic-laboratories
#7
Stephen E Lincoln, Shan Yang, Melissa S Cline, Yuya Kobayashi, Can Zhang, Scott Topper, David Haussler, Benedict Paten, Robert L Nussbaum
BACKGROUND: Genetic tests of the cancer predisposition genes BRCA1 and BRCA2 inform significant clinical decisions for both physicians and patients. Most uncovered variants are benign, and determining which few are pathogenic (disease-causing) is sometimes challenging and can potentially be inconsistent among laboratories. The ClinVar database makes de-identified clinical variant classifications from multiple laboratories publicly available for comparison and review, per recommendations of the American Medical Association (AMA), the American College of Medical Genetics (ACMG), the National Society for Genetic Counselors (NSGC), and other organizations...
July 2017: JCO Precis Oncol
https://www.readbyqxmd.com/read/28732364/a-novel-heterozygous-germline-deletion-in-msh2-gene-in-a-five-generation-chinese-family-with-lynch-syndrome
#8
Bin Wu, Wuyang Ji, Shengran Liang, Chao Ling, Yan You, Lai Xu, Min-Er Zhong, Yi Xiao, Hui-Zhong Qiu, Jun-Yang Lu, Santasree Banerjee
Lynch syndrome (LS) is one of the most common familial forms of colorectal cancer predisposing syndrome with an autosomal dominant mode of inheritance. LS is caused by the germline mutations in DNA mismatch repair (MMR) genes including MSH2, MLH1, MSH6and PMS2. Clinically, LS is characterized by high incidence of early-onset colorectal cancer as well as endometrial, small intestinal and urinary tract cancers, usually occur in the third to fourth decade of the life. Here we describe a five generation Chinese family with LS clinically diagnosed according to the Amsterdam II criteria...
July 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/28726804/diagnostic-cytogenetic-testing-following-positive-noninvasive-prenatal-screening-results-a-clinical-laboratory-practice-resource-of-the-american-college-of-medical-genetics-and-genomics-acmg
#9
Athena M Cherry, Yassmine M Akkari, Kimberly M Barr, Hutton M Kearney, Nancy C Rose, Sarah T South, James H Tepperberg, Jeanne M Meck
Disclaimer: ACMG Clinical Laboratory Practice Resources are developed primarily as an educational tool for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these practice resources is voluntary and does not necessarily assure a successful medical outcome. This Clinical Laboratory Practice Resource 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...
August 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28706611/a-novel-variant-in-the-pah-gene-causing-phenylketonuria-in-an-iranian-pedigree
#10
Elaheh Alavinejad, Seyede Zahra Sajedi, Masoumeh Razipour, Mona Entezam, Neda Mohajer, Aria Setoodeh, Saeed Talebi, Mohammad Keramatipour
BACKGROUND: Phenylalanine hydroxylase (PAH) gene is the well-known causative gene for classic Phenylketonuria (PKU) (OMIM#261600) disease, with more than 500 reported mutations. Through this study, a novel mutation in the PAH gene in an Iranian pedigree with phenylketonuria was introduced. METHODS: A consanguineous family with a 10-year old affected girl was referred for genetic analysis. Mutation screening of all exons and exon-intron boundaries was performed by Sanger sequencing, and mini haplotype analysis was carried out by genotyping of Short Tandem Repeat (STR) and Variable Number Tandem Repeat (VNTR) alleles...
July 2017: Avicenna Journal of Medical Biotechnology
https://www.readbyqxmd.com/read/28689263/variation-among-consent-forms-for-clinical-whole-exome-sequencing
#11
Sara A Fowler, Carol J Saunders, Mark A Hoffman
The goal of this study was to explore variation among informed consent documents for clinical whole exome sequencing (WES) in order to identify the level of consistency with the recommendations from the American College of Medical Genetics and Genomics (ACMG) and the Presidential Commission for the Study of Bioethical Issues (Bioethics Commission) regarding informed consent for clinical WES. Recommendations were organized into a framework of key points for analysis. Content analysis was conducted on a sample of informed consent documents for clinical WES downloaded from 18 laboratory websites...
July 8, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28682309/laboratory-diagnosis-of-biotinidase-deficiency-2017-update-a-technical-standard-and-guideline-of-the-american-college-of-medical-genetics-and-genomics
#12
Erin T Strovel, Tina M Cowan, Anna I Scott, Barry Wolf
Disclaimer: These ACMG Standards and Guidelines are intended as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these Standards and Guidelines is voluntary and does not necessarily assure a successful medical outcome. These Standards and Guidelines 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...
October 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28671958/clinical-genome-sequencing-and-population-preferences-for-information-about-incidental-findings-from-medically-actionable-genes-mags-to-patient-actionable-genes-pags
#13
Thomas Ploug, Søren Holm
Whole genome or exome sequencing is increasingly used in the clinical contexts, and 'incidental' findings are generated. There is need for an adequate policy for the reporting of these findings to individuals. Such a policy has been suggested by the American College of Medical Genetics and Genomics (ACMG). We argue that ACMG's policy is overly paternalistic, and that an adequate policy must take into account population preferences. We conducted a choice based conjoint survey of population preferences for reporting in a representative sample of the Danish population...
2017: PloS One
https://www.readbyqxmd.com/read/28661487/cap-acmg-proficiency-testing-for-biochemical-genetics-laboratories-a-summary-of-performance
#14
Devin Oglesbee, Tina M Cowan, Marzia Pasquali, Timothy C Wood, Karen E Weck, Thomas Long, Glenn E Palomaki
PurposeTesting for inborn errors of metabolism is performed by clinical laboratories worldwide, each utilizing laboratory-developed procedures. We sought to summarize performance in the College of American Pathologists' (CAP) proficiency testing (PT) program and identify opportunities for improving laboratory quality. When evaluating PT data, we focused on a subset of laboratories that have participated in at least one survey since 2010.MethodsAn analysis of laboratory performance (2004 to 2014) on the Biochemical Genetics PT Surveys, a program administered by CAP and the American College of Medical Genetics and Genomics...
June 29, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28597968/genetic-epidemiology-of-familial-mediterranean-fever-through-integrative-analysis-of-whole-genome-and-exome-sequences-from-middle-east-and-north-africa
#15
Remya Koshy, Ambily Sivadas, Vinod Scaria
Familial Mediterranean fever (FMF), an autosomal recessive and rare autoinflammatory disease is caused by genetic mutations in the MEFV gene and is highly prevalent in the Mediterranean basin. Though the carrier frequency of specific disease variants in the MEFV gene has been reported from isolated studies, a comprehensive view of variants in the Mediterranean region has not been possible due to paucity of data. The recent availability of whole-genome and whole-exome datasets prompted us to study the genetic epidemiology of MEFV variants in the region...
June 9, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28545862/a-novel-pathogenic-variant-in-the-fzd6-gene-causes-recessive-nail-dysplasia-in-a-large-iranian-kindred
#16
Javad Mohammadi-Asl, Mohammad Reza Pourreza, Aliasgar Mohammadi, Ameneh Eskandari, Sima Mozafar-Jalali, Mohammad Amin Tabatabaiefar
BACKGROUND: Nail disorder nonsyndromic congenital (NDNC) is a very rare clinically and genetically heterogeneous disease inherited both in recessive or dominant modes. FZD6 is a component of Wnt-FZD signaling pathway in which recessive loss-of-function variants in the corresponding genes could lead to nail anomalies. OBJECTIVE: A large multiplex family with NDNC was referred for genetic counselling. Thorough genetic evaluation was performed. METHODS: PCR-Sanger sequencing was carried out for the coding exons and exon-intron boundaries of the FZD6 gene...
October 2017: Journal of Dermatological Science
https://www.readbyqxmd.com/read/28512758/reporting-practices-for-unsolicited-and-secondary-findings-from-next-generation-sequencing-technologies-perspectives-of-laboratory-personnel
#17
Danya F Vears, Karine Sénécal, Pascal Borry
While next-generation sequencing (NGS) has enormous potential to identify genetic causes of disease, the nature of the technology means that it can also identify additional information about the individual receiving sequencing that is unrelated to the original rationale for testing. Reporting these unsolicited findings (UF) to clinicians, and subsequently to patients, could lead to potentially lifesaving interventions. Most international guidelines provide limited specific recommendations as to whether these UF should be reported...
August 2017: Human Mutation
https://www.readbyqxmd.com/read/28492532/sherloc-a-comprehensive-refinement-of-the-acmg-amp-variant-classification-criteria
#18
Keith Nykamp, Michael Anderson, Martin Powers, John Garcia, Blanca Herrera, Yuan-Yuan Ho, Yuya Kobayashi, Nila Patil, Janita Thusberg, Marjorie Westbrook, Scott Topper
PurposeThe 2015 American College of Medical Genetics and Genomics-Association for Molecular Pathology (ACMG-AMP) guidelines were a major step toward establishing a common framework for variant classification. In practice, however, several aspects of the guidelines lack specificity, are subject to varied interpretations, or fail to capture relevant aspects of clinical molecular genetics. A simple implementation of the guidelines in their current form is insufficient for consistent and comprehensive variant classification...
October 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28492529/corrigendum-acmg-recommendations-for-reporting-of-incidental-findings-in-clinical-exome-and-genome-sequencing
#19
Robert C Green, Jonathan S Berg, Wayne W Grody, Sarah S Kalia, Bruce R Korf, Christa L Martin, Amy L McGuire, Robert L Nussbaum, Julianne M O'Daniel, Kelly E Ormond, Heidi L Rehm, Michael S Watson, Marc S Williams, Leslie G Biesecker
No abstract text is available yet for this article.
May 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28449774/utility-of-post-mortem-genetic-testing-in-cases-of-sudden-arrhythmic-death-syndrome
#20
Najim Lahrouchi, Hariharan Raju, Elisabeth M Lodder, Efstathios Papatheodorou, James S Ware, Michael Papadakis, Rafik Tadros, Della Cole, Jonathan R Skinner, Jackie Crawford, Donald R Love, Chee J Pua, Bee Y Soh, Jaydutt D Bhalshankar, Risha Govind, Jacob Tfelt-Hansen, Bo G Winkel, Christian van der Werf, Yanushi D Wijeyeratne, Greg Mellor, Jan Till, Marta C Cohen, Maria Tome-Esteban, Sanjay Sharma, Arthur A M Wilde, Stuart A Cook, Connie R Bezzina, Mary N Sheppard, Elijah R Behr
BACKGROUND: Sudden arrhythmic death syndrome (SADS) describes a sudden death with negative autopsy and toxicological analysis. Cardiac genetic disease is a likely etiology. OBJECTIVES: This study investigated the clinical utility and combined yield of post-mortem genetic testing (molecular autopsy) in cases of SADS and comprehensive clinical evaluation of surviving relatives. METHODS: We evaluated 302 expertly validated SADS cases with suitable DNA (median age: 24 years; 65% males) who underwent next-generation sequencing using an extended panel of 77 primary electrical disorder and cardiomyopathy genes...
May 2, 2017: Journal of the American College of Cardiology
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