Characterisation of CASPR2 deficiency disorder - a syndrome involving autism, epilepsy and language impairment

BMC Medical Genetics

Volumn 17, Issue 1, 2016, Pages 1-7

  Rodenas Cuadrado, Pedro ^a   Pietrafusa, Nicola ^b   Francavilla, Teresa ^b   La Neve, Angela ^b   Striano, Pasquale ^c   Vernes, Sonja C ^a,d  

^a MAX PLANCK INSTITUTE FOR PSYCHOLINGUISTICS   (Netherlands)

^b UNIVERSITY OF BARI   (Italy)

^c UNIVERSITY OF GENOA   (Italy)

^d RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

Author keywords

Autism; CNTNAP2; Epilepsy; Intellectual disability; Language regression

Indexed keywords

CARBAMAZEPINE; CLOBAZAM; LAMOTRIGINE; PHENOBARBITAL; TOPIRAMATE; VALPROIC ACID; VIGABATRIN; CNTNAP2 PROTEIN, HUMAN; MEMBRANE PROTEIN; NERVE PROTEIN;

ARTICLE; AUTISM; CASE REPORT; CASPR2 GENE; CEREBELLUM HYPOPLASIA; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CNTNAP2 GENE; COMPLEX PARTIAL SEIZURE; CONSANGUINEOUS MARRIAGE; DISEASE SEVERITY; DSM-5; ELECTROENCEPHALOGRAM; EPILEPSY; FACE DYSMORPHIA; FALLING; FEMALE; GAIT DISORDER; GENE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; HOMOZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; LANGUAGE DISABILITY; MOTOR DYSFUNCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; OBESITY; ONSET AGE; PHENOTYPE; PRESCHOOL CHILD; TONIC CLONIC SEIZURE; UNCONSCIOUSNESS; WECHSLER ADULT INTELLIGENCE SCALE; DEFICIENCY; DNA SEQUENCE; GENETICS; HETEROZYGOTE; INFANT; MUTATION; PEDIGREE; SYNDROME;

AUTISTIC DISORDER; CHILD, PRESCHOOL; EPILEPSY; FEMALE; GENE DELETION; HETEROZYGOTE; HUMANS; INFANT; INTELLECTUAL DISABILITY; LANGUAGE DISORDERS; MEMBRANE PROTEINS; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, DNA; SYNDROME;

EID: 84956640101     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/s12881-016-0272-8     Document Type: Article

References (19)

1. Rodenas-Cuadrado P, Ho J, Vernes SC. Shining a light on CNTNAP2: complex functions to complex disorders. Eur J Hum Genet. 2014;22(2):171-8.
2. Nakabayashi K, Scherer SW. The human contactin-associated protein-like 2 gene (CNTNAP2) spans over 2 Mb of DNA at chromosome 7q35. Genomics. 2001;73(1):108-12.
3. Fisher SE, Vernes SC. Genetics and the Language Sciences. Annu Rev Linguist. 2015;1(1):null.
4. Traka M, Goutebroze L, Denisenko N, Bessa M, Nifli A, Havaki S, et al. Association of TAG-1 with Caspr2 is essential for the molecular organization of juxtaparanodal regions of myelinated fibers. J Cell Biol. 2003;162(6):1161-72.
5. Poliak S, Salomon D, Elhanany H, Sabanay H, Kiernan B, Pevny L, et al. Juxtaparanodal clustering of Shaker-like K+ channels in myelinated axons depends on Caspr2 and TAG-1. J Cell Biol. 2003;162(6):1149-60.
6. Poliak S, Gollan L, Martinez R, Custer A, Einheber S, Salzer JL, et al. Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels. Neuron. 1999;24(4):1037-47.
7. Alarcon M, Abrahams BS, Stone JL, Duvall JA, Perederiy JV, Bomar JM, et al. Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am J Hum Genet. 2008;82(1):150-9.
8. Abrahams BS, Tentler D, Perederiy JV, Oldham MC, Coppola G, Geschwind DH. Genome-wide analyses of human perisylvian cerebral cortical patterning. Proc Natl Acad Sci U S A. 2007;104(45):17849-54.
9. Anderson GR, Galfin T, Xu W, Aoto J, Malenka RC, Sudhof TC. Candidate autism gene screen identifies critical role for cell-adhesion molecule CASPR2 in dendritic arborization and spine development. Proc Natl Acad Sci USA. 2012;109(44):18120-5.
10. Peñagarikano O, Abrahams Brett S, Herman Edward I, Winden Kellen D, Gdalyahu A, Dong H, et al. Absence of CNTNAP2 Leads to Epilepsy, Neuronal Migration Abnormalities, and Core Autism-Related Deficits. Cell. 2011;147(1):235-46.
11. Striano P, Coppola A, Paravidino R, Malacarne M, Gimelli S, Robbiano A, et al. Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization. Arch Neurol. 2012;69(3):322-30.
12. Bakkaloglu B, O'Roak BJ, Louvi A, Gupta AR, Abelson JF, Morgan TM, et al. Molecular cytogenetic analysis and resequencing of contactin associated proteinlike 2 in autism spectrum disorders. Am J Hum Genet. 2008;82(1):165-73.
13. Zweier C, de Jong EK, Zweier M, Orrico A, Ousager LB, Collins AL, et al. CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila. Am J Hum Genet. 2009;85(5):655-66.
14. Strauss KA, Puffenberger EG, Huentelman MJ, Gottlieb S, Dobrin SE, Parod JM, et al. Recessive symptomatic focal epilepsy and mutant contactinassociated protein-like 2. N Engl J Med. 2006;354(13):1370-7.
15. Falivelli G, De Jaco A, Favaloro FL, Kim H, Wilson J, Dubi N, et al. Inherited genetic variants in autism-related CNTNAP2 show perturbed trafficking and ATF6 activation. Hum Mol Genet. 2012;21(21):4761-73.
16. Watson CM, Crinnion LA, Tzika A, Mills A, Coates A, Pendlebury M, et al. Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome. Am J Med Genet A. 2014;164A(10):2649-55.
17. Gregor A, Albrecht B, Bader I, Bijlsma EK, Ekici AB, Engels H, et al. Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. BMC Med Genet. 2011;12:106.
18. Orrico A, Galli L, Zappella M, Lam CW, Bonifacio S, Torricelli F, et al. Possible case of Pitt-Hopkins syndrome in sibs. Am J Med Genet. 2001;103(2):157-9.
19. Lancaster E, Huijbers MG, Bar V, Boronat A, Wong A, Martinez-Hernandez E, et al. Investigations of caspr2, an autoantigen of encephalitis and neuromyotonia. Ann Neurol. 2011;69(2):303-11.