Clinical exome sequencing in neuromuscular diseases: an experience from Turkey

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Esra Börklü-YücelHülya Kayserili

Abstract

Neuromuscular diseases (NMDs) encompass a variety of ailments from muscular dystrophies to ataxias, in the course of which the functioning of the muscles is eventually either directly or indirectly impaired. The clinical diagnosis of a particular NMD is not always straightforward due to the clinical and genetic heterogeneity of the disorders under investigation. Traditional diagnostic tools such as electrophysiological tests and muscle biopsies are both invasive and painful methods, causing the patients to be reluctant. Next-generation sequencing, on the other hand, emerged as an alternative method for the diagnosis of NMDs, both with its minimally invasive nature and fast processing period. In this study, clinical exome sequencing (CES) was applied to a cohort of 70 probands in Turkey, 44 of whom received a final diagnosis, representing a diagnostic rate of 62.9%. Out of the 50 mutations identified to be causal, 26 were novel in the known 27 NMD genes. Two probands had complex/blended phenotypes. Molecular confirmation of clinical diagnosis of NMDs has a major prognostic impact and is crucial for the management and the possibility of alternative reproductive options. CES, which has been increasingly adopted to diagnose single-...Continue Reading

References

Feb 27, 1997·The New England Journal of Medicine·D J DugganC Angelini
Nov 18, 1998·Annals of Neurology·M R BaumgartnerJ M Saudubray
Mar 31, 1999·Proceedings of the National Academy of Sciences of the United States of America·P J LynchT V McCarthy
Dec 16, 2003·Journal of Neurology·Maggie C WalterHanns Lochmüller
Jun 29, 2004·Human Mutation·M FaninC Angelini
Nov 16, 2004·Molecular Genetics and Metabolism·Steven SteinbergNancy Braverman
Mar 3, 2005·European Journal of Human Genetics : EJHG·Homa TajsharghiAnders Oldfors
Jul 13, 2005·Human Mutation·Karine NguyenNicolas Lévy
Jul 21, 2005·European Journal of Human Genetics : EJHG·Tanja LalicJohan T den Dunnen
Mar 23, 2007·Neuromuscular Disorders : NMD·Isabelle Pénisson-BesnierNigel Laing
Dec 7, 2007·Brain : a Journal of Neurology·Emma J GroenKatharine M D Bushby
Mar 14, 2008·European Journal of Human Genetics : EJHG·Jeroen TripIeke B Ginjaar
Jan 19, 2010·Bioinformatics·Heng Li, Richard Durbin
Jul 6, 2010·Nucleic Acids Research·Kai WangHakon Hakonarson
Mar 19, 2011·Journal of the American Society of Nephrology : JASN·Rosa Vargas-PoussouXavier Jeunemaitre
Oct 11, 2013·Human Mutation·Sarah L SawyerKym M Boycott
Aug 19, 2014·JAMA Neurology·Brent L FogelStanley F Nelson
Dec 17, 2014·Brain : a Journal of Neurology·Angela PylePatrick F Chinnery
Mar 6, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sue RichardsUNKNOWN ACMG Laboratory Quality Assurance Committee
Aug 20, 2015·Journal of Inherited Metabolic Disease·Kevin BerendseBwee Tien Poll-The
Nov 19, 2015·Orphanet Journal of Rare Diseases·Emily J ToddGianina Ravenscroft
May 10, 2016·Annals of Neurology·Gina L O'GradyKathryn North
Nov 17, 2016·European Journal of Human Genetics : EJHG·Daniel TrujillanoRami Abou Jamra
Dec 3, 2016·Nucleic Acids Research·Sebastian KöhlerPeter N Robinson
Nov 21, 2017·NPJ Genomic Medicine·Deborah SchofieldGina L O'Grady
Nov 28, 2017·Journal of Neurology, Neurosurgery, and Psychiatry·Sofie Thurø ØstergaardJohn Vissing
Feb 9, 2018·Neurology. Genetics·Gloria T HaskellJonathan S Berg
Nov 9, 2018·Respirology : Official Journal of the Asian Pacific Society of Respirology·Nicole SheersDavid J Berlowitz
Feb 12, 2019·Seminars in Neurology·Christyn Edmundson, Shawn J Bird
Dec 4, 2019·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Fabrizio RaccaGiuseppe Vita

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Citations

Jan 5, 2021·Frontiers in Neuroscience·Filiz SenbabaogluTugba Bagci-Onder
May 1, 2021·International Journal of Molecular Sciences·Dèlia YuberoFrancesc Palau
May 9, 2021·Annals of Human Genetics·Hanife Saat, Ibrahim Sahin

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