Literature DB >> 27159321

Whole exome sequencing in patients with white matter abnormalities.

Adeline Vanderver1,2,3, Cas Simons4, Guy Helman1,2, Joanna Crawford4, Nicole I Wolf5, Geneviève Bernard6, Amy Pizzino1, Johanna L Schmidt1,2, Asako Takanohashi2, David Miller4,7, Amirah Khouzam8, Vani Rajan8, Erica Ramos8, Shimul Chowdhury8, Tina Hambuch8, Kelin Ru4, Gregory J Baillie4, Sean M Grimmond4,7, Ljubica Caldovic2, Joseph Devaney2, Miriam Bloom9, Sarah H Evans10, Jennifer L P Murphy1, Nathan McNeill11, Brent L Fogel12, Raphael Schiffmann11, Marjo S van der Knaap5,13, Ryan J Taft3,4,8.   

Abstract

Here we report whole exome sequencing (WES) on a cohort of 71 patients with persistently unresolved white matter abnormalities with a suspected diagnosis of leukodystrophy or genetic leukoencephalopathy. WES analyses were performed on trio, or greater, family groups. Diagnostic pathogenic variants were identified in 35% (25 of 71) of patients. Potentially pathogenic variants were identified in clinically relevant genes in a further 7% (5 of 71) of cases, giving a total yield of clinical diagnoses in 42% of individuals. These findings provide evidence that WES can substantially decrease the number of unresolved white matter cases. Ann Neurol 2016;79:1031-1037.
© 2016 American Neurological Association.

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Year:  2016        PMID： 27159321      PMCID： PMC5354169          DOI： 10.1002/ana.24650

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


  33 in total

1.  A new leukoencephalopathy with vanishing white matter.

Authors:  M S van der Knaap; P G Barth; F J Gabreëls; E Franzoni; J H Begeer; H Stroink; J J Rotteveel; J Valk
Journal:  Neurology       Date:  1997-04       Impact factor: 9.910

2.  Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

Authors:  Brent L Fogel; Hane Lee; Joshua L Deignan; Samuel P Strom; Sibel Kantarci; Xizhe Wang; Fabiola Quintero-Rivera; Eric Vilain; Wayne W Grody; Susan Perlman; Daniel H Geschwind; Stanley F Nelson
Journal:  JAMA Neurol       Date:  2014-10       Impact factor: 18.302

3.  Clinical whole exome sequencing in child neurology practice.

Authors:  Siddharth Srivastava; Julie S Cohen; Hilary Vernon; Kristin Barañano; Rebecca McClellan; Leila Jamal; SakkuBai Naidu; Ali Fatemi
Journal:  Ann Neurol       Date:  2014-08-30       Impact factor: 10.422

4.  Magnetic resonance imaging pattern recognition in hypomyelinating disorders.

Authors:  Marjan E Steenweg; Adeline Vanderver; Susan Blaser; Alberto Bizzi; Tom J de Koning; Grazia M S Mancini; Wessel N van Wieringen; Frederik Barkhof; Nicole I Wolf; Marjo S van der Knaap
Journal:  Brain       Date:  2010-10       Impact factor: 13.501

5.  Invited article: an MRI-based approach to the diagnosis of white matter disorders.

Authors:  Raphael Schiffmann; Marjo S van der Knaap
Journal:  Neurology       Date:  2009-02-24       Impact factor: 9.910

6.  A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.

Authors:  Cas Simons; Nicole I Wolf; Nathan McNeil; Ljubica Caldovic; Joseph M Devaney; Asako Takanohashi; Joanna Crawford; Kelin Ru; Sean M Grimmond; David Miller; Davide Tonduti; Johanna L Schmidt; Robert S Chudnow; Rudy van Coster; Lieven Lagae; Jill Kisler; Jürgen Sperner; Marjo S van der Knaap; Raphael Schiffmann; Ryan J Taft; Adeline Vanderver
Journal:  Am J Hum Genet       Date:  2013-04-11       Impact factor: 11.025

7.  Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.

Authors:  Ryan J Taft; Adeline Vanderver; Richard J Leventer; Stephen A Damiani; Cas Simons; Sean M Grimmond; David Miller; Johanna Schmidt; Paul J Lockhart; Kate Pope; Kelin Ru; Joanna Crawford; Tena Rosser; Irenaeus F M de Coo; Monica Juneja; Ishwar C Verma; Prab Prabhakar; Susan Blaser; Julian Raiman; Petra J W Pouwels; Marianna R Bevova; Truus E M Abbink; Marjo S van der Knaap; Nicole I Wolf
Journal:  Am J Hum Genet       Date:  2013-05-02       Impact factor: 11.025

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Authors:  Jenny C Taylor; Hilary C Martin; Stefano Lise; John Broxholme; Jean-Baptiste Cazier; Andy Rimmer; Alexander Kanapin; Gerton Lunter; Simon Fiddy; Chris Allan; A Radu Aricescu; Moustafa Attar; Christian Babbs; Jennifer Becq; David Beeson; Celeste Bento; Patricia Bignell; Edward Blair; Veronica J Buckle; Katherine Bull; Ondrej Cais; Holger Cario; Helen Chapel; Richard R Copley; Richard Cornall; Jude Craft; Karin Dahan; Emma E Davenport; Calliope Dendrou; Olivier Devuyst; Aimée L Fenwick; Jonathan Flint; Lars Fugger; Rodney D Gilbert; Anne Goriely; Angie Green; Ingo H Greger; Russell Grocock; Anja V Gruszczyk; Robert Hastings; Edouard Hatton; Doug Higgs; Adrian Hill; Chris Holmes; Malcolm Howard; Linda Hughes; Peter Humburg; David Johnson; Fredrik Karpe; Zoya Kingsbury; Usha Kini; Julian C Knight; Jonathan Krohn; Sarah Lamble; Craig Langman; Lorne Lonie; Joshua Luck; Davis McCarthy; Simon J McGowan; Mary Frances McMullin; Kerry A Miller; Lisa Murray; Andrea H Németh; M Andrew Nesbit; David Nutt; Elizabeth Ormondroyd; Annette Bang Oturai; Alistair Pagnamenta; Smita Y Patel; Melanie Percy; Nayia Petousi; Paolo Piazza; Sian E Piret; Guadalupe Polanco-Echeverry; Niko Popitsch; Fiona Powrie; Chris Pugh; Lynn Quek; Peter A Robbins; Kathryn Robson; Alexandra Russo; Natasha Sahgal; Pauline A van Schouwenburg; Anna Schuh; Earl Silverman; Alison Simmons; Per Soelberg Sørensen; Elizabeth Sweeney; John Taylor; Rajesh V Thakker; Ian Tomlinson; Amy Trebes; Stephen Rf Twigg; Holm H Uhlig; Paresh Vyas; Tim Vyse; Steven A Wall; Hugh Watkins; Michael P Whyte; Lorna Witty; Ben Wright; Chris Yau; David Buck; Sean Humphray; Peter J Ratcliffe; John I Bell; Andrew Om Wilkie; David Bentley; Peter Donnelly; Gilean McVean
Journal:  Nat Genet       Date:  2015-05-18       Impact factor: 38.330

9.  Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene.

Authors:  Rita Guerreiro; Eleanna Kara; Isabelle Le Ber; Jose Bras; Jonathan D Rohrer; Ricardo Taipa; Tammaryn Lashley; Céline Dupuits; Nicole Gurunlian; Fanny Mochel; Jason D Warren; Didier Hannequin; Frédéric Sedel; Christel Depienne; Agnès Camuzat; Véronique Golfier; Foucaud Du Boisguéheneuc; Lucia Schottlaender; Nick C Fox; Jonathan Beck; Simon Mead; Martin N Rossor; John Hardy; Tamas Revesz; Alexis Brice; Henry Houlden
Journal:  JAMA Neurol       Date:  2013-07       Impact factor: 18.302

10.  De novo mutations in epileptic encephalopathies.

Authors:  Andrew S Allen; Samuel F Berkovic; Patrick Cossette; Norman Delanty; Dennis Dlugos; Evan E Eichler; Michael P Epstein; Tracy Glauser; David B Goldstein; Yujun Han; Erin L Heinzen; Yuki Hitomi; Katherine B Howell; Michael R Johnson; Ruben Kuzniecky; Daniel H Lowenstein; Yi-Fan Lu; Maura R Z Madou; Anthony G Marson; Heather C Mefford; Sahar Esmaeeli Nieh; Terence J O'Brien; Ruth Ottman; Slavé Petrovski; Annapurna Poduri; Elizabeth K Ruzzo; Ingrid E Scheffer; Elliott H Sherr; Christopher J Yuskaitis; Bassel Abou-Khalil; Brian K Alldredge; Jocelyn F Bautista; Samuel F Berkovic; Alex Boro; Gregory D Cascino; Damian Consalvo; Patricia Crumrine; Orrin Devinsky; Dennis Dlugos; Michael P Epstein; Miguel Fiol; Nathan B Fountain; Jacqueline French; Daniel Friedman; Eric B Geller; Tracy Glauser; Simon Glynn; Sheryl R Haut; Jean Hayward; Sandra L Helmers; Sucheta Joshi; Andres Kanner; Heidi E Kirsch; Robert C Knowlton; Eric H Kossoff; Rachel Kuperman; Ruben Kuzniecky; Daniel H Lowenstein; Shannon M McGuire; Paul V Motika; Edward J Novotny; Ruth Ottman; Juliann M Paolicchi; Jack M Parent; Kristen Park; Annapurna Poduri; Ingrid E Scheffer; Renée A Shellhaas; Elliott H Sherr; Jerry J Shih; Rani Singh; Joseph Sirven; Michael C Smith; Joseph Sullivan; Liu Lin Thio; Anu Venkat; Eileen P G Vining; Gretchen K Von Allmen; Judith L Weisenberg; Peter Widdess-Walsh; Melodie R Winawer
Journal:  Nature       Date:  2013-08-11       Impact factor: 49.962
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Authors:  Debdeep Dutta; Lauren C Briere; Oguz Kanca; Paul C Marcogliese; Melissa A Walker; Frances A High; Adeline Vanderver; Joel Krier; Nikkola Carmichael; Christine Callahan; Ryan J Taft; Cas Simons; Guy Helman; Undiagnosed Diseases Network; Michael F Wangler; Shinya Yamamoto; David A Sweetser; Hugo J Bellen
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3.  Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis.

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Journal:  J Child Neurol       Date:  2018-06-08       Impact factor: 1.987

4.  Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.

Authors:  Marisa I Mendes; Mariana Gutierrez Salazar; Kether Guerrero; Isabelle Thiffault; Gajja S Salomons; Laurence Gauquelin; Luan T Tran; Diane Forget; Marie-Soleil Gauthier; Quinten Waisfisz; Desiree E C Smith; Cas Simons; Marjo S van der Knaap; Iris Marquardt; Aida Lemes; Hanna Mierzewska; Bernhard Weschke; Wolfgang Koehler; Benoit Coulombe; Nicole I Wolf; Geneviève Bernard
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5.  Phenotypic and Imaging Spectrum Associated With WDR45.

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6.  Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.

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Journal:  Epilepsia       Date:  2018-05-11       Impact factor: 5.864

8.  De Novo Mutations and Rare Variants Occurring in NMDA Receptors.

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Review 9.  NOTCH2NLC-related repeat expansion disorders: an expanding group of neurodegenerative disorders.

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10.  CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63.

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Journal:  Eur J Hum Genet       Date:  2018-08-08       Impact factor: 4.246
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