Literature DB >> 22670139

Severe Intellectual Disability Associated with Recessive Defects in CNTNAP2 and NRXN1.

C Zweier1.   

Abstract

While heterozygous variants in CNTNAP2 and NRXN1 are reported as susceptibility factors for neuropsychiatric disorders, homozygous or compound heterozygous defects in either gene were reported as causative for severe neurodevelopmental disorders. This review provides an overview of the clinical aspects in patients with recessive defects in CNTNAP2 and NRXN1.

Entities:  

Year:  2011        PMID： 22670139      PMCID： PMC3366709          DOI： 10.1159/000331270

Source DB:  PubMed          Journal:  Mol Syndromol        ISSN： 1661-8769


  32 in total

1.  Possible case of Pitt-Hopkins syndrome in sibs.

Authors:  A Orrico; L Galli; M Zappella; C W Lam; S Bonifacio; F Torricelli; G Hayek
Journal:  Am J Med Genet       Date:  2001-10-01

2.  CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder.

Authors:  Annemieke J M H Verkerk; Carol A Mathews; Marijke Joosse; Bert H J Eussen; Peter Heutink; Ben A Oostra
Journal:  Genomics       Date:  2003-07       Impact factor: 5.736

Review 3.  Neurexin IV, caspr and paranodin--novel members of the neurexin family: encounters of axons and glia.

Authors:  H J Bellen; Y Lu; R Beckstead; M A Bhat
Journal:  Trends Neurosci       Date:  1998-10       Impact factor: 13.837

4.  Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2.

Authors:  Kevin A Strauss; Erik G Puffenberger; Matthew J Huentelman; Steven Gottlieb; Seth E Dobrin; Jennifer M Parod; Dietrich A Stephan; D Holmes Morton
Journal:  N Engl J Med       Date:  2006-03-30       Impact factor: 91.245

5.  Direct measure of the de novo mutation rate in autism and schizophrenia cohorts.

Authors:  Philip Awadalla; Julie Gauthier; Rachel A Myers; Ferran Casals; Fadi F Hamdan; Alexander R Griffing; Mélanie Côté; Edouard Henrion; Dan Spiegelman; Julien Tarabeux; Amélie Piton; Yan Yang; Adam Boyko; Carlos Bustamante; Lan Xiong; Judith L Rapoport; Anjené M Addington; J Lynn E DeLisi; Marie-Odile Krebs; Ridha Joober; Bruno Millet; Eric Fombonne; Laurent Mottron; Martine Zilversmit; Jon Keebler; Hussein Daoud; Claude Marineau; Marie-Hélène Roy-Gagnon; Marie-Pierre Dubé; Adam Eyre-Walker; Pierre Drapeau; Eric A Stone; Ronald G Lafrenière; Guy A Rouleau
Journal:  Am J Hum Genet       Date:  2010-09-10       Impact factor: 11.025

6.  Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies.

Authors:  Heather C Mefford; Hiltrud Muhle; Philipp Ostertag; Sarah von Spiczak; Karen Buysse; Carl Baker; Andre Franke; Alain Malafosse; Pierre Genton; Pierre Thomas; Christina A Gurnett; Stefan Schreiber; Alexander G Bassuk; Michel Guipponi; Ulrich Stephani; Ingo Helbig; Evan E Eichler
Journal:  PLoS Genet       Date:  2010-05-20       Impact factor: 5.917

7.  Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene.

Authors:  Maricela Alarcón; Brett S Abrahams; Jennifer L Stone; Jacqueline A Duvall; Julia V Perederiy; Jamee M Bomar; Jonathan Sebat; Michael Wigler; Christa L Martin; David H Ledbetter; Stanley F Nelson; Rita M Cantor; Daniel H Geschwind
Journal:  Am J Hum Genet       Date:  2008-01       Impact factor: 11.025

8.  Disruption of neurexin 1 associated with autism spectrum disorder.

Authors:  Hyung-Goo Kim; Shotaro Kishikawa; Anne W Higgins; Ihn-Sik Seong; Diana J Donovan; Yiping Shen; Eric Lally; Lauren A Weiss; Juliane Najm; Kerstin Kutsche; Maria Descartes; Lynn Holt; Stephen Braddock; Robin Troxell; Lee Kaplan; Fred Volkmar; Ami Klin; Katherine Tsatsanis; David J Harris; Ilse Noens; David L Pauls; Mark J Daly; Marcy E MacDonald; Cynthia C Morton; Bradley J Quade; James F Gusella
Journal:  Am J Hum Genet       Date:  2008-01       Impact factor: 11.025

9.  Crucial role of Drosophila neurexin in proper active zone apposition to postsynaptic densities, synaptic growth, and synaptic transmission.

Authors:  Jingjun Li; James Ashley; Vivian Budnik; Manzoor A Bhat
Journal:  Neuron       Date:  2007-09-06       Impact factor: 17.173

10.  Mapping autism risk loci using genetic linkage and chromosomal rearrangements.

Authors:  Peter Szatmari; Andrew D Paterson; Lonnie Zwaigenbaum; Wendy Roberts; Jessica Brian; Xiao-Qing Liu; John B Vincent; Jennifer L Skaug; Ann P Thompson; Lili Senman; Lars Feuk; Cheng Qian; Susan E Bryson; Marshall B Jones; Christian R Marshall; Stephen W Scherer; Veronica J Vieland; Christopher Bartlett; La Vonne Mangin; Rhinda Goedken; Alberto Segre; Margaret A Pericak-Vance; Michael L Cuccaro; John R Gilbert; Harry H Wright; Ruth K Abramson; Catalina Betancur; Thomas Bourgeron; Christopher Gillberg; Marion Leboyer; Joseph D Buxbaum; Kenneth L Davis; Eric Hollander; Jeremy M Silverman; Joachim Hallmayer; Linda Lotspeich; James S Sutcliffe; Jonathan L Haines; Susan E Folstein; Joseph Piven; Thomas H Wassink; Val Sheffield; Daniel H Geschwind; Maja Bucan; W Ted Brown; Rita M Cantor; John N Constantino; T Conrad Gilliam; Martha Herbert; Clara Lajonchere; David H Ledbetter; Christa Lese-Martin; Janet Miller; Stan Nelson; Carol A Samango-Sprouse; Sarah Spence; Matthew State; Rudolph E Tanzi; Hilary Coon; Geraldine Dawson; Bernie Devlin; Annette Estes; Pamela Flodman; Lambertus Klei; William M McMahon; Nancy Minshew; Jeff Munson; Elena Korvatska; Patricia M Rodier; Gerard D Schellenberg; Moyra Smith; M Anne Spence; Chris Stodgell; Ping Guo Tepper; Ellen M Wijsman; Chang-En Yu; Bernadette Rogé; Carine Mantoulan; Kerstin Wittemeyer; Annemarie Poustka; Bärbel Felder; Sabine M Klauck; Claudia Schuster; Fritz Poustka; Sven Bölte; Sabine Feineis-Matthews; Evelyn Herbrecht; Gabi Schmötzer; John Tsiantis; Katerina Papanikolaou; Elena Maestrini; Elena Bacchelli; Francesca Blasi; Simona Carone; Claudio Toma; Herman Van Engeland; Maretha de Jonge; Chantal Kemner; Frederieke Koop; Frederike Koop; Marjolein Langemeijer; Marjolijn Langemeijer; Channa Hijmans; Channa Hijimans; Wouter G Staal; Gillian Baird; Patrick F Bolton; Michael L Rutter; Emma Weisblatt; Jonathan Green; Catherine Aldred; Julie-Anne Wilkinson; Andrew Pickles; Ann Le Couteur; Tom Berney; Helen McConachie; Anthony J Bailey; Kostas Francis; Gemma Honeyman; Aislinn Hutchinson; Jeremy R Parr; Simon Wallace; Anthony P Monaco; Gabrielle Barnby; Kazuhiro Kobayashi; Janine A Lamb; Ines Sousa; Nuala Sykes; Edwin H Cook; Stephen J Guter; Bennett L Leventhal; Jeff Salt; Catherine Lord; Christina Corsello; Vanessa Hus; Daniel E Weeks; Fred Volkmar; Maïté Tauber; Eric Fombonne; Andy Shih; Kacie J Meyer
Journal:  Nat Genet       Date:  2007-02-18       Impact factor: 38.330
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  10 in total

1.  Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis.

Authors:  Alexander Conant; Julian Curiel; Amy Pizzino; Parisa Sabetrasekh; Jennifer Murphy; Miriam Bloom; Sarah H Evans; Guy Helman; Ryan J Taft; Cas Simons; Matthew T Whitehead; Steven A Moore; Adeline Vanderver
Journal:  J Child Neurol       Date:  2018-06-08       Impact factor: 1.987

Review 2.  Genetic insights into the functional elements of language.

Authors:  Adam Szalontai; Katalin Csiszar
Journal:  Hum Genet       Date:  2013-06-08       Impact factor: 4.132

Review 3.  Intragenic CNTNAP2 Deletions: A Bridge Too Far?

Authors:  Martin Poot
Journal:  Mol Syndromol       Date:  2017-02-10

Review 4.  The Roles of Par3, Par6, and aPKC Polarity Proteins in Normal Neurodevelopment and in Neurodegenerative and Neuropsychiatric Disorders.

Authors:  Lili Zhang; Xiangyun Wei
Journal:  J Neurosci       Date:  2022-06-15       Impact factor: 6.709

5.  Molecular Architecture of Contactin-associated Protein-like 2 (CNTNAP2) and Its Interaction with Contactin 2 (CNTN2).

Authors:  Zhuoyang Lu; M V V V Sekhar Reddy; Jianfang Liu; Ana Kalichava; Jiankang Liu; Lei Zhang; Fang Chen; Yun Wang; Luis Marcelo F Holthauzen; Mark A White; Suchithra Seshadrinathan; Xiaoying Zhong; Gang Ren; Gabby Rudenko
Journal:  J Biol Chem       Date:  2016-09-12       Impact factor: 5.157

6.  Mouse Cntnap2 and Human CNTNAP2 ASD Alleles Cell Autonomously Regulate PV+ Cortical Interneurons.

Authors:  Daniel Vogt; Kathleen K A Cho; Samantha M Shelton; Anirban Paul; Z Josh Huang; Vikaas S Sohal; John L R Rubenstein
Journal:  Cereb Cortex       Date:  2018-11-01       Impact factor: 5.357

7.  The Role of CNTNAP2 in Itch Sensation.

Authors:  Santosh K Mishra
Journal:  J Invest Dermatol       Date:  2021-07-24       Impact factor: 8.551

8.  Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairment.

Authors:  Pía Villanueva; Ron Nudel; Alexander Hoischen; María Angélica Fernández; Nuala H Simpson; Christian Gilissen; Rose H Reader; Lillian Jara; María Magdalena Echeverry; Maria Magdalena Echeverry; Clyde Francks; Gillian Baird; Gina Conti-Ramsden; Anne O'Hare; Patrick F Bolton; Elizabeth R Hennessy; Hernán Palomino; Luis Carvajal-Carmona; Joris A Veltman; Jean-Baptiste Cazier; Zulema De Barbieri; Simon E Fisher; Dianne F Newbury
Journal:  PLoS Genet       Date:  2015-03-17       Impact factor: 5.917

9.  No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins.

Authors:  John D Murdoch; Abha R Gupta; Stephan J Sanders; Michael F Walker; John Keaney; Thomas V Fernandez; Michael T Murtha; Samuel Anyanwu; Gordon T Ober; Melanie J Raubeson; Nicholas M DiLullo; Natalie Villa; Zainabdul Waqar; Catherine Sullivan; Luis Gonzalez; A Jeremy Willsey; So-Yeon Choe; Benjamin M Neale; Mark J Daly; Matthew W State
Journal:  PLoS Genet       Date:  2015-01-26       Impact factor: 5.917

10.  Widespread differences in cortex DNA methylation of the "language gene" CNTNAP2 between humans and chimpanzees.

Authors:  Eberhard Schneider; Nady El Hajj; Steven Richter; Justin Roche-Santiago; Indrajit Nanda; Werner Schempp; Peter Riederer; Bianca Navarro; Ronald E Bontrop; Ivanela Kondova; Claus Jürgen Scholz; Thomas Haaf
Journal:  Epigenetics       Date:  2014-01-16       Impact factor: 4.528
  10 in total

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