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Molecular Genetics & Genomic Medicine

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https://www.readbyqxmd.com/read/29441698/familial-aortic-disease-and-a-large-duplication-in-chromosome-16p13-1
#1
Philipp Erhart, Tobias Brandt, Beate K Straub, Ingrid Hausser, Sabine Hentze, Dittmar Böckler, Caspar Grond-Ginsbach
BACKGROUND AND PURPOSE: A recurrent duplication of chromosome 16p13.1 was associated with aortic dissection as well as with cervical artery dissection. We explore the segregation of this duplication in a family with familial aortic disease. METHODS: Whole exome sequencing (WES) analysis was performed in a patient with a family history of aortic diseases and ischemic stroke due to an aortic dissection extending into both carotid arteries. RESULTS: The index patient, his affected father, and an affected sister of his father carried a large duplication of region 16p13...
February 14, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29441694/presynaptic-congenital-myasthenic-syndrome-with-altered-synaptic-vesicle-homeostasis-linked-to-compound-heterozygous-sequence-variants-in-rph3a
#2
Ricardo A Maselli, Jessica Vázquez, Leah Schrumpf, Juan Arredondo, Marian Lara, Jonathan B Strober, Peter Pytel, Robert L Wollmann, Michael Ferns
BACKGROUND: Monogenic defects of synaptic vesicle (SV) homeostasis have been implicated in many neurologic diseases, including autism, epilepsy, and movement disorders. In addition, abnormal vesicle exocytosis has been associated with several endocrine dysfunctions. METHODS: We report an 11 year old girl with learning disabilities, tremors, ataxia, transient hyperglycemia, and muscle fatigability responsive to albuterol sulfate. Failure of neuromuscular transmission was confirmed by single fiber electromyography...
February 14, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29439288/childhood-pneumothorax-in-birt-hogg-dub%C3%A3-syndrome-a-cohort-study-and-review-of-the-literature
#3
Marianne Geilswijk, Elisabeth Bendstrup, Mia Gebauer Madsen, Mette Sommerlund, Anne-Bine Skytte
BACKGROUND: Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominantly inherited cancer predisposition syndrome associated with an increased risk of spontaneous pneumothorax (SP) and renal cell carcinoma in the adult population. Recent studies suggest that BHD accounts for up to 10% of all SP in adults and BHD in children with SP have been reported. METHODS: To explore to what extent BHD is the cause of childhood pneumothorax, we studied a Danish BHD cohort consisting of 109 cases from 22 families...
February 13, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29411539/association-between-glutathione-peroxidase-1-codon-198-variant-and-the-occurrence-of-breast-cancer-in-rwanda
#4
Thierry Habyarimana, Youssef Bakri, Pacifique Mugenzi, Jean Baptiste Mazarati, Mohammed Attaleb, Mohammed El Mzibri
BACKGROUND: Glutathione peroxidase 1 gene (GPX1) is one of the antioxidant enzyme that remove the reactive oxygen species in a continuous process. Since the identification of a well-characterized functional polymorphism named p.Pro198Leu (rs1050450 C>T) in GPX1 gene, abundant studies have evaluated the association between p.Pro198Leu polymorphism and tumor risk in diverse population. But, the available results related to breast cancer are conflicting and absent in Africa. The present case-control study was planned to assess the presence of GPX1 Pro198Leu polymorphism in Rwanda population to determine whether it is associated with the risk of developing breast cancer...
February 6, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29397575/genotype-phenotype-investigation-of-35-patients-from-11-unrelated-families-with-camptodactyly-arthropathy-coxa-vara-pericarditis-cacp-syndrome
#5
Saliha Yilmaz, Dilek Uludağ Alkaya, Özgür Kasapçopur, Kenan Barut, Ekin S Akdemir, Cemre Celen, Mark W Youngblood, Katsuhito Yasuno, Kaya Bilguvar, Murat Günel, Beyhan Tüysüz
BACKGROUND: The camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is a rare autosomal recessive condition characterized by camptodactyly, noninflammatory arthropathy, coxa vara, and pericarditis. CACP is caused by mutations in the proteoglycan 4 (PRG4) gene, which encodes a lubricating glycoprotein present in the synovial fluid and at the surface of articular cartilage. METHODS: In the present study, we compared the clinical and molecular findings of CACP syndrome in 35 patients from 11 unrelated families...
February 4, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29397573/mutations-in-the-ph-domain-of-dnm1-are-associated-with-a-nonepileptic-phenotype-characterized-by-developmental-delay-and-neurobehavioral-abnormalities
#6
Emily Brereton, Emily Fassi, Gabriel C Araujo, Jonathan Dodd, Aida Telegrafi, Sheel J Pathak, Marwan Shinawi
BACKGROUND: Dynamin 1 is a protein involved in the synaptic vesicle cycle, which facilitates the exocytosis of neurotransmitters necessary for normal signaling and development in the central nervous system. Pathogenic variants in DNM1 have been implicated in global developmental delay (DD), severe intellectual disability (ID), and notably, epileptic encephalopathy. All previously reported DNM1 pathogenic variants causing this severe phenotype occur in the GTPase and Middle domains of the dynamin 1 protein...
February 4, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29385657/in-silico-analysis-of-structural-modifications-in-and-around-the-integrin-%C3%AE-iib-genu-caused-by-itga2b-variants-in-human-platelets-with-emphasis-on-glanzmann-thrombasthenia
#7
Xavier Pillois, Pierre Peters, Karin Segers, Alan T Nurden
BACKGROUND: Studies on the inherited bleeding disorder, Glanzmann thrombasthenia (GT), have helped define the role of the αIIbβ3 integrin in platelet aggregation. Stable bent αIIbβ3 undergoes conformation changes on activation allowing fibrinogen binding and its taking an extended form. The αIIb genu assures the fulcrum of the bent state. Our goal was to determine how structural changes induced by missense mutations in the αIIb genu define GT phenotype. METHODS: Sanger sequencing of ITGA2B and ITGB3 in the index case followed by in silico modeling of all known GT-causing missense mutations extending from the lower part of the β-propeller, and through the thigh and upper calf-1 domains...
January 31, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29378385/novel-foxl2-mutations-cause-blepharophimosis-ptosis-epicanthus-inversus-syndrome-with-premature-ovarian-insufficiency
#8
Xiao-Wen Yang, Wen-Bin He, Fei Gong, Wen Li, Xiu-Rong Li, Chang-Gao Zhong, Guang-Xiu Lu, Ge Lin, Juan Du, Yue-Qiu Tan
BACKGROUND: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a malformation of the eyelids. Forkhead Box L2 (FOXL2) is the only gene known to be associated with BPES. METHODS: We identified two Han Chinese BPES families with premature ovarian insufficiency (POI). Sanger sequencing and in vitro functional analysis were performed to identify the genetic cause. RESULTS: Sanger sequencing identified two novel mutations (c.462_468del, c...
January 29, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29368431/experience-with-genomic-sequencing-in-pediatric-patients-with-congenital-cardiac-defects-in-a-large-community-hospital
#9
Natalie S Hauser, Benjamin D Solomon, Thierry Vilboux, Alina Khromykh, Rajiv Baveja, Dale L Bodian
BACKGROUND: Congenital cardiac defects, whether isolated or as part of a larger syndrome, are the most common type of human birth defect occurring on average in about 1% of live births depending on the malformation. As there is an expanding understanding of the underlying molecular mechanisms by which a cardiac defect may occur, there is a need to assess the current rates of diagnosis of cardiac defects by molecular sequencing in a clinical setting. METHODS AND RESULTS: In this report, we evaluated 34 neonatal and pediatric patients born with a cardiac defect and their parents using exomized preexisting whole genome sequencing (WGS) data to model clinically available exon-based tests...
January 25, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29368425/genetic-assessment-wait-time-indicators-in-the-high-risk-ontario-breast-screening-program
#10
Andrea Eisen, Kristina M Blackmore, Wendy S Meschino, Derek Muradali, June C Carroll, Vicky Majpruz, Ellen Warner, Linda Rabeneck, Anna M Chiarelli
BACKGROUND: The Ontario Breast Screening Program (OBSP) expanded in July 2011 to screen high-risk women aged 30-69 with annual MRI and mammography. This study evaluated wait time (WT) indicators along the genetic assessment (GA) pathway for women referred to the High Risk OBSP. METHODS: Information was collected for 27,170 women referred to the High Risk OBSP from July 2011 to June 2015 and followed for GA until June 2016. Median duration (days), interquartile range (IQR) were measured for each WT indicator by program year, age, prior breast cancer, and risk criteria...
January 25, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29363275/functional-study-of-a-novel-missense-single-nucleotide-variant-of-nup107-in-two-daughters-of-mexican-origin-with-premature-ovarian-insufficiency
#11
Yu Ren, Feiyang Diao, Sunita Katari, Svetlana Yatsenko, Huaiyang Jiang, Michelle A Wood-Trageser, Aleksandar Rajkovic
BACKGROUND: Hypergonadotropic hypogonadism (HH) is a genetically heterogeneous disorder that usually presents with amenorrhea, atrophic ovaries, and low estrogen. Most cases of HH are idiopathic and nonsyndromic. Nucleoporin 107 (NUP107), a protein involved in transport between cytoplasm and nucleus with putative roles in meiosis/mitosis progression, was recently implicated as a cause of HH. We identified a NUP107 genetic variant in a nonconsanguineous family with two sisters affected with primary amenorrhea and HH, and generated a mouse model that carried the human variant...
January 24, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29352562/cbs-mutations-are-good-predictors-for-b6-responsiveness-a-study-based-on-the-analysis-of-35-brazilian-classical-homocystinuria-patients
#12
Soraia Poloni, Fernanda Sperb-Ludwig, Taciane Borsatto, Giovana Weber Hoss, Maria Juliana R Doriqui, Emília K Embiruçu, Ney Boa-Sorte, Charles Marques, Chong A Kim, Carolina Fischinger Moura de Souza, Helio Rocha, Marcia Ribeiro, Carlos E Steiner, Carolina A Moreno, Pricila Bernardi, Eugenia Valadares, Osvaldo Artigalas, Gerson Carvalho, Hector Y C Wanderley, Johanna Kugele, Melanie Walter, Lorena Gallego-Villar, Henk J Blom, Ida Vanessa D Schwartz
BACKGROUND: Classical homocystinuria (HCU) is a monogenic disease caused by the deficient activity of cystathionine β-synthase (CβS). The objective of this study was to identify the CBS mutations in Brazilian patients with HCU. METHODS: gDNA samples were obtained for 35 patients (30 families) with biochemically confirmed diagnosis of HCU. All exons and exon-intron boundaries of CBS gene were sequenced. Gene expression analysis by qRT-PCR was performed in six patients...
January 20, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29314763/integrating-exome-sequencing-into-a-diagnostic-pathway-for-epileptic-encephalopathy-evidence-of-clinical-utility-and-cost-effectiveness
#13
Elizabeth E Palmer, Deborah Schofield, Rupendra Shrestha, Tejaswi Kandula, Rebecca Macintosh, John A Lawson, Ian Andrews, Hugo Sampaio, Alexandra M Johnson, Michelle A Farrar, Michael Cardamone, David Mowat, George Elakis, William Lo, Ying Zhu, Kevin Ying, Paula Morris, Jiang Tao, Kerith-Rae Dias, Michael Buckley, Marcel E Dinger, Mark J Cowley, Tony Roscioli, Edwin P Kirk, Ann Bye, Rani K Sachdev
BACKGROUND: Epileptic encephalopathies are a devastating group of neurological conditions in which etiological diagnosis can alter management and clinical outcome. Exome sequencing and gene panel testing can improve diagnostic yield but there is no cost-effectiveness analysis of their use or consensus on how to best integrate these tests into clinical diagnostic pathways. METHODS: We conducted a retrospective cost-effectiveness study comparing trio exome sequencing with a standard diagnostic approach, for a well-phenotyped cohort of 32 patients with epileptic encephalopathy, who remained undiagnosed after "first-tier" testing...
January 4, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29274115/a-novel-desmin-des-indel-mutation-causes-severe-atypical-cardiomyopathy-in-combination-with-atrioventricular-block-and-skeletal-myopathy
#14
Ilona Schirmer, Mareike Dieding, Bärbel Klauke, Andreas Brodehl, Anna Gaertner-Rommel, Volker Walhorn, Jan Gummert, Uwe Schulz, Lech Paluszkiewicz, Dario Anselmetti, Hendrik Milting
BACKGROUND: DES mutations cause different cardiac and skeletal myopathies. Most of them are missense mutations. METHODS: Using a next-generation sequencing cardiac 174 gene panel, we identified a novel heterozygous in-frame indel mutation (DES-c.493_520del28insGCGT, p.Q165_A174delinsAS) in a Caucasian patient with cardiomyopathy in combination with atrioventricular block and skeletal myopathy. This indel mutation is located in the coding region of the first exon...
December 23, 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29271071/a-novel-splice-variant-in-emc1-is-associated-with-cerebellar-atrophy-visual-impairment-psychomotor-retardation-with-epilepsy
#15
Thenral S Geetha, Lokesh Lingappa, Abhishek Ravindra Jain, Hridya Govindan, Nitin Mandloi, Sakthivel Murugan, Ravi Gupta, Ramprasad Vedam
BACKGROUND: Several genes have been implicated in a highly variable presentation of developmental delay with psychomotor retardation. Mutations in EMC1 gene have recently been reported. Herein, we describe a proband born of a consanguineous marriage, who presented with early infantile onset epilepsy, scaphocephaly, developmental delay, central hypotonia, muscle wasting, and severe cerebellar and brainstem atrophy. METHODS: Genetic testing in the proband was performed using custom clinical exome and targeted next-generation sequencing...
December 22, 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29271092/genetic-testing-including-targeted-gene-panel-in-a-diverse-clinical-population-of-children-with-autism-spectrum-disorder-findings-and-implications
#16
Louisa Kalsner, Jennifer Twachtman-Bassett, Kristin Tokarski, Christine Stanley, Thyde Dumont-Mathieu, Justin Cotney, Stormy Chamberlain
BACKGROUND: Genetic testing of children with autism spectrum disorder (ASD) is now standard in the clinical setting, with American College of Medical Genetics and Genomics (ACMGG) guidelines recommending microarray for all children, fragile X testing for boys and additional gene sequencing, including PTEN and MECP2, in appropriate patients. Increasingly, testing utilizing high throughput sequencing, including gene panels and whole exome sequencing, are offered as well. METHODS: We performed genetic testing including microarray, fragile X testing and targeted gene panel, consistently sequencing 161 genes associated with ASD risk, in a clinical population of 100 well characterized children with ASD...
December 21, 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29266834/patients-with-sporadic-and-familial-amyotrophic-lateral-sclerosis-found-value-in-genetic-testing
#17
Karin N Wagner, Haikady N Nagaraja, Dawn C Allain, Adam Quick, Stephen J Kolb, Jennifer Roggenbuck
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is increasingly recognized as a genetic disease. There is no consensus, however, as to the role of genetic testing in the care of the ALS patient. METHODS: We conducted a survey to study patient access, attitudes, and experience with ALS genetic testing among patients enrolled in a US ALS registry. RESULTS: Among 449 survey respondents, 156 (34.7%) were offered testing and 105 of 156 (67.3%) completed testing...
December 20, 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29266833/short-report-follow-up-of-bahamian-women-with-a-brca1-or-brca2-mutation
#18
Steven A Narod, Raleigh Butler, David Bobrowski, Mohammad R Akbari, DuVaughan Curling, John Lunn, Catherine Ho, Sara Panahi, Marcia Llacuachaqui, Talia Donenberg, Judith Hurley
PURPOSE: We sought to determine to what extent the knowledge of carrying a BRCA1 or BRCA2 mutation influences the uptake of preventive surgeries in Bahamian women, including bilateral salpingo-oophorectomy and bilateral mastectomy. PATIENTS AND METHODS: The study population consisted of 78 female residents of the Bahamas for whom a BRCA1 or BRCA2 mutation had been detected between 2004 and 2014. The mean age of the 78 participants at the time of genetic testing was 46 years (age range 22-73 years)...
December 20, 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29243366/eng-mutational-mosaicism-in-a-family-with-hereditary-hemorrhagic-telangiectasia
#19
Pernille M Tørring, Anette D Kjeldsen, Lilian Bomme Ousager, Klaus Brusgaard
BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder caused by mutations in ENG, ACVRL1, or SMAD4. Around 90% of HHT patients present with a heterozygous pathogenic genetic variation. Almost all cases of HHT have a family history. Very few cases are de novo or mosaicism. We describe a case with mutational mosaicism that would not be observed in the clinical routine when using Sanger sequencing or a NGS read coverage below app. 100. METHODS: DNA was extracted from peripheral blood leukocytes, and buccal swabs...
December 14, 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29224215/deleterious-variants-in-dchs1-are-prevalent-in-sporadic-cases-of-mitral-valve-prolapse
#20
Alisson Clemenceau, Jean-Christophe Bérubé, Paméla Bélanger, Nathalie Gaudreault, Maxime Lamontagne, Oumhani Toubal, Marie-Annick Clavel, Romain Capoulade, Patrick Mathieu, Philippe Pibarot, Yohan Bosse
BACKGROUND: A recent study identified DCHS1 as a causal gene for mitral valve prolapse. The goal of this study is to investigate the presence and frequency of known and novel variants in this gene in 100 asymptomatic patients with moderate to severe organic mitral regurgitation. METHODS: DNA sequencing assays were developed for two previously identified functional missense variants, namely p.R2330C and p.R2513H, and all 21 exons of DCHS1. Pathogenicity of variants was evaluated in silico...
December 10, 2017: Molecular Genetics & Genomic Medicine
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