Article thumbnail

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

By Anne Gregor, Beate Albrecht, Ingrid Bader, Emilia K Bijlsma, Arif B Ekici, Hartmut Engels, Karl Hackmann, Denise Horn, Juliane Hoyer, Jakub Klapecki, Jürgen Kohlhase, Isabelle Maystadt, Sandra Nagl, Eva Prott, Sigrid Tinschert, Reinhard Ullmann, Eva Wohlleber, Geoffrey Woods, André Reis, Anita Rauch and Christiane Zweier
Topics: Research Article
Publisher: BioMed Central
OAI identifier: oai:pubmedcentral.nih.gov:3162517
Provided by: PubMed Central

To submit an update or takedown request for this paper, please submit an Update/Correction/Removal Request.

Suggested articles

Citations

  1. (2010). A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet
  2. (2009). A: A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients.
  3. (2009). A: CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila.
  4. (2010). A: Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. Hum Mutat
  5. (2009). al: Genome-wide analyses of exonic copy number variants in a familybased study point to novel autism susceptibility genes. PLoSGenet
  6. (2008). al: Structural variation of chromosomes in autism spectrum disorder. AmJHumGenet
  7. (2010). Belouchi A: Hotspots of large rare deletions in the human genome. PLoS One
  8. (2008). Chakravarti A: A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. AmJHumGenet
  9. (2008). Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia. Hum Mol Genet
  10. (2006). DH: Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. NEnglJMed
  11. (2010). Eichler EE: Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet
  12. (2009). et al: Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature
  13. (2010). et al: Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.
  14. (2010). et al: Direct measure of the de novo mutation rate in autism and schizophrenia cohorts.
  15. (2009). et al: Disruption of the neurexin 1 gene is associated with schizophrenia. HumMolGenet
  16. (2007). et al: Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet
  17. (2009). Gene associated with seizures, autism, and hepatomegaly in an Amish girl. Pediatr Neurol
  18. (2008). Geschwind DH: Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. AmJHumGenet
  19. (2010). Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay.
  20. (2008). JA: CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy. MolPsychiatry
  21. (2008). JA: Recurrent CNVs disrupt three candidate genes in schizophrenia patients. AmJHumGenet
  22. (2008). JF: Disruption of neurexin 1 associated with autism spectrum disorder. AmJHumGenet
  23. (2008). JM: A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha. JMedGenet
  24. (2003). Oostra BA: CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder. Genomics
  25. (1999). Peles E: Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels. Neuron
  26. (2010). S: New copy number variations in schizophrenia. PLoS One
  27. (2004). SALL4 deletions are a common cause of Okihiro and acro-renal-ocular Gregor et al.
  28. (2008). SE: A functional genetic link between distinct developmental language disorders. NEnglJMed
  29. Splice Site Analyzer-Tool.
  30. Splice Site Score Calculation.
  31. (2006). SS: High frequency of neurexin 1beta signal peptide structural variants in patients with autism. NeurosciLett
  32. (2008). SS: Neurexin 1alpha structural variants associated with autism. NeurosciLett
  33. (2008). State MW: Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. AmJHumGenet
  34. The oligogenic properties of Bardet-Biedl syndrome.
  35. (2007). Tumer Z: Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome. EurJHumGenet