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3 results on '"monogenic dyslipidemia"'

1. Case conference concerning 9-year-old boy having 20 mmol/lcholesterol: from diagnosis to effective treatment

Author

AV Susekov, ZG Luginova, AN Meshkov, EY Solovyova, TV Balakhonova, MA Saidova, TI Kotkina, MY Scherbakova, VV Davydkin, MA Dubovenko, AY Postnov, ZB Khasanova, GA Konovalov, and VV Kukharchuk

Subjects
семейная гиперхолестеринемия, моногенная дислипидемия, наследование, холестерин, липопротеиды низкой плотности, familial hypercholesterolemia, monogenic dyslipidemia, inheritance, cholesterol, low density lipoprotein, Medicine
Abstract

Familial hypercholesterolemia (FHC) is the most common and most severe form of monogenic dyslipidemia with early and rapidly progressing atherosclerosis and its complications [1--4, 12, 14]. Without treatment, the prognosis for patients with FHC is as heavy as for AIDS patients. For the first time the molecular defect - absence or dysfunction of the LDL receptor (LDL-R), the main route for cholesterol catabolism in humans [2, 3, 12, 13] - was described with regard to this genetic disease. The article analyzes a clinical case of the disease in a 9-year-old boy.

Published
2014
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2. Single, short in‐del, and copy number variations detection in monogenic dyslipidemia using a next‐generation sequencing strategy.

Author

Marmontel, O., Charrière, S., Simonet, T., Bonnet, V., Dumont, S., Mahl, M., Jacobs, C., Nony, S., Chabane, K., Bozon, D., Janin, A., Peretti, N., Lachaux, A., Bardel, C., Millat, G., Moulin, P., Marçais, C., and Di Filippo, M.

Subjects
*DYSLIPIDEMIA, *NUCLEOTIDE sequencing, *MOLECULAR diagnosis, *DNA copy number variations, *HYPERCHOLESTEREMIA, *PHENOTYPES
Abstract

Optimal molecular diagnosis of primary dyslipidemia is challenging to confirm the diagnosis, test and identify at risk relatives. The aim of this study was to test the application of a single targeted next‐generation sequencing (NGS) panel for hypercholesterolemia, hypocholesterolemia, and hypertriglyceridemia molecular diagnosis. NGS workflow based on a custom AmpliSeq panel was designed for sequencing the most prevalent dyslipidemia‐causing genes (ANGPTL3, APOA5, APOC2, APOB, GPIHBP1, LDLR, LMF1, LPL, PCSK9) on the Ion PGM Sequencer. One hundred and forty patients without molecular diagnosis were studied. In silico analyses were performed using the NextGENe software and homemade tools for detection of copy number variations (CNV). All mutations were confirmed using appropriate tools. Eighty seven variations and 4 CNV were identified, allowing a molecular diagnosis for 40/116 hypercholesterolemic patients, 5/13 hypocholesterolemic patients, and 2/11, hypertriglyceridemic patients respectively. This workflow allowed the detection of CNV contrary to our previous strategy. Some variations were found in previously unexplored regions providing an added value for genotype‐phenotype correlation and familial screening. In conclusion, this new NGS process is an effective mutation detection method and allows better understanding of phenotype. Consequently this assay meets the medical need for individualized diagnosis of dyslipidemia. [ABSTRACT FROM AUTHOR]

Published
2018
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3. Single, short in-del, and copy number variations detection in monogenic dyslipidemia using a next-generation sequencing strategy

Author

Philippe Moulin, Séverine Nony, Sybil Charrière, O. Marmontel, Muriel Mahl, Chantal Jacobs, Alain Lachaux, Thomas Simonet, Kaddour Chabane, Gilles Millat, C. Marçais, Sabrina Dumont, M. Di Filippo, Claire Bardel, Alexandre Janin, Dominique Bozon, Véronique Bonnet, Noël Peretti, Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL), Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Biostatistiques santé, Département biostatistiques et modélisation pour la santé et l'environnement [LBBE], Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM), hospices civils de Lyon, Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université Claude Bernard Lyon 1 (UCBL), and Université de Lyon-Institut National de la Recherche Agronomique (INRA)

Subjects
0301 basic medicine, genotype phenotype correlation, [SDV]Life Sciences [q-bio], Comorbidity, monogenic dyslipidemia, Familial hypercholesterolemia, 030204 cardiovascular system & hematology, Workflow, autosomal-dominant hypercholesterolemia, 0302 clinical medicine, INDEL Mutation, targeted next-generation sequencing, Medicine, Copy-number variation, Child, Genetics (clinical), Aged, 80 and over, Genetics & Heredity, apo-b gene, familial hypercholesterolemia, copy number variation, Ion torrent PGM, High-Throughput Nucleotide Sequencing, Middle Aged, 3. Good health, Child, Preschool, combined hypolipidemia, Adult, Adolescent, DNA Copy Number Variations, ldl-c levels, hypertriglyceridemia, In silico, density-lipoprotein-receptor, Computational biology, apolipoprotein-b, DNA sequencing, Diagnosis, Differential, Young Adult, 03 medical and health sciences, lipid disorders, Genetics, Humans, Genetic Predisposition to Disease, Mutation detection, Genetic Testing, Genetic Association Studies, Aged, Dyslipidemias, business.industry, PCSK9, severe, Hypertriglyceridemia, medicine.disease, 030104 developmental biology, coronary-heart-disease, business, Biomarkers, Dyslipidemia
Abstract

International audience; Optimal molecular diagnosis of primary dyslipidemia is challenging to confirm the diagnosis, test and identify at risk relatives. The aim of this study was to test the application of a single targeted next-generation sequencing (NGS) panel for hypercholesterolemia, hypocholesterolemia, and hypertriglyceridemia molecular diagnosis. NGS workflow based on a custom AmpliSeq panel was designed for sequencing the most prevalent dyslipidemia-causing genes (ANGPTL3, APOA5, APOC2, APOB, GPIHBP1, LDLR, LMF1, LPL, PCSK9) on the Ion PGM Sequencer. One hundred and forty patients without molecular diagnosis were studied. In silico analyses were performed using the NextGENe software and homemade tools for detection of copy number variations (CNV). All mutations were confirmed using appropriate tools. Eighty seven variations and 4 CNV were identified, allowing a molecular diagnosis for 40/116 hypercholesterolemic patients, 5/13 hypocholesterolemic patients, and 2/11, hypertriglyceridemic patients respectively. This workflow allowed the detection of CNV contrary to our previous strategy. Some variations were found in previously unexplored regions providing an added value for genotype-phenotype correlation and familial screening. In conclusion, this new NGS process is an effective mutation detection method and allows better understanding of phenotype. Consequently this assay meets the medical need for individualized diagnosis of dyslipidemia.

Published
2018

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