Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

Gregor, Anne; Albrecht, Beate; Bader, Ingrid; Bijlsma, Emilia K; Ekici, Arif B; Engels, Hartmut; Hackmann, Karl; Horn, Denise; Hoyer, Juliane; Klapecki, Jakub; Kohlhase, Jürgen; Maystadt, Isabelle; Nagl, Sandra; Prott, Eva; Tinschert, Sigrid; Ullmann, Reinhard; Wohlleber, Eva; Woods, Geoffrey; Reis, André; Rauch, Anita; Zweier, Christiane

doi:10.1186/1471-2350-12-106

Cited by 121Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

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Gregor, Anne, Albrecht, Beate, Bader, Ingrid, Bijlsma, Emilia K, Ekici, Arif B, Engels, Hartmut, Hackmann, Karl, Horn, Denise +13 more·2011·BMC Medical Genetics

DOI 10.1186/1471-2350-12-106PMC PMC3162517

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Abstract

Background: Heterozygous copy-number and missense variants in CNTNAP2 and NRXN1 have repeatedly been associated with a wide spectrum of neuropsychiatric disorders such as developmental language and autism spectrum disorders, epilepsy and schizophrenia. Recently, homozygous or compound heterozygous defects in either gene were reported as causative for severe intellectual disability. Methods: 99 patients with severe intellectual disability and resemblance to Pitt-Hopkins syndrome and/or suspected recessive inheritance were screened for mutations in CNTNAP2 and NRXN1. Molecular karyotyping was performed in 45 patients. In 8 further patients with variable intellectual disability and heterozygous deletions in either CNTNAP2 or NRXN1, the remaining allele was sequenced. Results: By molecular karyotyping and mutational screening of CNTNAP2 and NRXN1 in a group of severely intellectually disabled patients we identified a heterozygous deletion in NRXN1 in one patient and heterozygous splice-site, frameshift and stop mutations in CNTNAP2 in four patients, respectively. Neither in these patients nor in eight further patients with heterozygous deletions within NRXN1 or CNTNAP2 we could identify a defect on the second allele. One deletion in NRXN1 and one deletion in CNTNAP2 occurred de novo, in another family the deletion was also identified in the mother who had learning difficulties, and in all other tested families one parent was shown to be healthy carrier of the respective deletion or mutation. Conclusions: We report on patients with heterozygous defects in CNTNAP2 or NRXN1 associated with severe intellectual disability, which has only been reported for recessive defects before. These results expand the spectrum of phenotypic severity in patients with heterozygous defects in either gene. The large variability between severely affected patients and mildly affected or asymptomatic carrier parents might suggest the presence of a second hit, not necessarily located in the same gene.

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Rare variation in CNTNAP2, including CNVs, other structural disruptions and deleterious sequence variation, has been identified in subjects with autism, epilepsy, intellectual disability, Pitt-Hopkins-like syndrome, schizophrenia and Tourette syndrome.
“More directly, rare variation in CNTNAP2, including CNVs, other structural disruptions and deleterious sequence variation, has been identified in subjects with autism, epilepsy, intellectual disability, Pitt-Hopkins-like syndrome, schizophrenia and Tourette syndrome (42–48), albeit with differing degrees of evidence for effect on these traits.”
From Individual common variants exert weak effects on the risk for autism spectrum disorders (2012) · cites this paper as [43]

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“Incomplete penetrance may be explained by: (a) secondary and independently segregating genetic risk factors, as supported by enhanced frequencies of additional pathogenic CNVs in cohorts of patients carrying NRXN1 deletions;(17,36) (b) exposure to environmental factors, especially active prenatally;(83,84) and/or (c)…”
Background
Globularity and language-readiness: generating new predictions by expanding the set of genes of interest
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Language deficits in schizophrenia and autism as related oscillatory connectomopathies: An evolutionary account
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Autoimmune Epilepsy
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Neurexin 1 (NRXN1) splice isoform expression during human neocortical development and aging
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Molecular Architecture of Contactin-associated Protein-like 2 (CNTNAP2) and Its Interaction with Contactin 2 (CNTN2)
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Epilepsy with auditory features
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Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum
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Self-citation
Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders
Gilling, M., Rasmussen, H. B., Calløe, K., Sequeira, A. F., Baretto, M., Oliveira, G., Almeida, J., Lauritsen, M. B., Ullmann, R., Boonen, S. E., et al. (2013) · Frontiers in Genetics · doi:10.3389/fgene.2013.00054 · Cited by 55 · see citing works
Self-citation
CNTNAP2 stabilizes interneuron dendritic arbors through CASK
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Increased Ca2+ signaling in NRXN1α+/− neurons derived from ASD induced pluripotent stem cells
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Possible functional links among brain- and skull-related genes selected in modern humans
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Microdeletions ofELP4Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation
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Genetics and the Language Sciences
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Genetic mechanisms of regression in autism spectrum disorder
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Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci
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CNTNAP2 and Language Processing in Healthy Individuals as Measured with ERPs
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Comprehensive cross-disorder analyses of CNTNAP2 suggest it is unlikely to be a primary risk gene for psychiatric disorders
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Intragenic CNTNAP2 Deletions: A Bridge Too Far
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Functional characterization of rare NRXN1 variants identified in autism spectrum disorders and schizophrenia
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Molecular Analysis of a Deletion Hotspot in the NRXN1 Region Reveals the Involvement of Short Inverted Repeats in Deletion CNVs
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NRXN1 deletions identified by array comparative genome hybridisation in a clinical case series – further understanding of the relevance of NRXN1 to neurodevelopmental disorders
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The role of cell adhesion molecules in brain wiring and neuropsychiatric disorders
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Autism Spectrum Disorder and Childhood Apraxia of Speech: Early Language-Related Hallmarks across Structural MRI Study
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Neurogenomics of speech and language disorders: the road ahead
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NRXN1α+/- is associated with increased excitability in ASD iPSC-derived neurons
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Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications
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Etiological yield of SNP microarrays in idiopathic intellectual disability
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Landscape of NRXN1 Gene Variants in Phenotypic Manifestations of Autism Spectrum Disorder: A Systematic Review
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Calcium signaling in neurodevelopment and pathophysiology of autism spectrum disorders
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Closing the translational gap between mutant mouse models and the clinical reality of psychotic illness
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Mapping the distribution of language related genes FoxP1, FoxP2, and CntnaP2 in the brains of vocal learning bat species
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Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment
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Gene × Gene Interaction in Shared Etiology of Autism and Specific Language Impairment
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The Gut-Brain-Microbiome Axis and Its Link to Autism: Emerging Insights and the Potential of Zebrafish Models
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The CNTNAP2-CASK complex modulates GluA1 subcellular distribution in interneurons
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Genetic insights into the functional elements of language
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The clinical relevance of intragenic NRXN1 deletions
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Autoantibodies and Psychosis
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Amino-Terminal Microdeletion within theCNTNAP2Gene Associated with Variable Expressivity of Speech Delay
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Phenotypic subregions within the split-hand/foot malformation 1 locus
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GABA synaptopathy promotes the elevation of caspases 3 and 9 as pro-apoptotic markers in Egyptian patients with autism spectrum disorder
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Novel Missense CNTNAP2 Variant Identified in Two Consanguineous Pakistani Families With Developmental Delay, Epilepsy, Intellectual Disability, and Aggressive Behavior
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A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1
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Self-citation
Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy
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A common variant of CNTNAP2 is associated with sub-threshold autistic traits and intellectual disability
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New Era of Mapping and Understanding Common Fragile Sites: An Updated Review on Origin of Chromosome Fragility
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Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures
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Integration of nutrigenomics, melatonin, serotonin and inflammatory cytokines in the pathophysiology of pregnancy-specific urinary incontinence in women with gestational diabetes mellitus
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Fraternal Twins With Autism, Severe Cognitive Deficit, and Epilepsy: Diagnostic Role of Chromosomal Microarray Analysis
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Characterization of speech and language phenotype in children with NRXN1 deletions
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Report of a patient with developmental delay, hearing loss, growth retardation, and cleft lip and palate and a deletion of 7q34‐36.1: Review of distal 7q deletions
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Pitt Hopkins-Like Syndrome 1 with Novel CNTNAP2 Mutation in Siblings
Mittal, R., Kumar, A., Ladda, R., Mainali, G., & Aliu, E. (2021) · Child Neurology Open · doi:10.1177/2329048x211055330 · Cited by 11 · see citing works
The association of CNTNAP2 rs2710102 and ENGRAILED-2 rs1861972 genes polymorphism and autism in Iranian population
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Detecting suicide risk in bipolar disorder patients from lymphoblastoid cell lines genetic signatures
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The noncoding RNA AK127244 in 2p16.3 locus: A new susceptibility region for neuropsychiatric disorders
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Gastrointestinal Dysfunction in Genetically Defined Neurodevelopmental Disorders
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A Missense Pathogenic Variant in a Conserved Region of CNTNAP2 Is Associated with Obesity, Seizures, and Language Impairment in a Pakistani Family
Naudhani, S., Ahmad, A., Bazai, F. K., Pervez, M. T., Zafar, A., Shah, S. A., Raheem, N., Baloch, A. H., Mushtaq, M., & Daud, S. (2023) · Molecular Syndromology · doi:10.1159/000529427 · Cited by 5 · see citing works
A rare case of autoimmune limbic encephalitis: an uncharted territory!
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Autoimmune Encephalitides
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Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C
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A boy with dysmorphic features, intellectual disability, and biallelic homozygous deletion in NRXN1
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Association of Transcription Factor 4 (TCF4) variants with schizophrenia and intellectual disability
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Delving into the Genetic Causes of Language Impairment in a Case of Partial Deletion of NRXN1
Benítez‐Burraco, A., Jiménez-Romero, M. S., & Fernández-Urquiza, M. (2022) · Molecular Syndromology · doi:10.1159/000524710 · Cited by 3 · see citing works

Severe Intellectual Disability Associated with Recessive Defects in CNTNAP2 and NRXN1
Zweier, C. (2011) · Molecular Syndromology · doi:10.1159/000331270 · Cited by 20 · see citing works
Self-citation
Case report: Pitt-Hopkins like syndrome with CNTNAP2 mutation
Albaazi, S., & Shareef, H. (2020) · Egyptian Journal of Medical Human Genetics · doi:10.1186/s43042-020-00113-0 · Cited by 2 · see citing works
Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum
Smogavec, M., Cleall, A., Hoyer, J., Lederer, D., Nassogne, M.-C., Palmer, E. E., Deprez, M., Benoit, V., Maystadt, I., Noakes, C., et al. (2016) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2016-103880 · Cited by 56 · see citing works
Self-citation
Pitt Hopkins-Like Syndrome 1 with Novel CNTNAP2 Mutation in Siblings
Mittal, R., Kumar, A., Ladda, R., Mainali, G., & Aliu, E. (2021) · Child Neurology Open · doi:10.1177/2329048x211055330 · Cited by 11 · see citing works
Pitt Hopkins-Like Syndrome 1 with novel CNTNAP2 mutation in siblings (2828)
Mittal, R., Alieue, E., Mainali, G., Ladda, R. L., & Kumar, A. (2021) · Neurology · doi:10.1212/wnl.96.15_supplement.2828

Authors: Gregor, A., Albrecht, B., Bader, I., Bijlsma, E. K., Ekici, A. B., Engels, H., Hackmann, K., Horn, D., Hoyer, J., Klapecki, J., Kohlhase, J., Maystadt, I., Nagl, S., Prott, E., Tinschert, S., Ullmann, R., Wohlleber, E., Woods, G., Reis, A., Rauch, A., & Zweier, C.
Affiliations: Friedrich-Alexander-Universität Erlangen-Nürnberg (DE)
University of Duisburg-Essen (DE)
Leiden University (NL)
University of Bonn (DE)
Technische Universität Dresden (DE)
Charité – Universitätsmedizin Berlin (DE)
Instytut Matki i Dziecka (PL)
Institute of Pathology and Genetics (BE)
Max Planck Institute for Molecular Genetics (DE)
Addenbrooke's Hospital (GB)
University of Zurich (CH)
Corresponding author: Zweier, Christiane
ORCID: Gregor, Anne
Bader, Ingrid
Bijlsma, Emilia K
Ekici, Arif B
Engels, Hartmut
Hackmann, Karl
Horn, Denise
Hoyer, Juliane
Klapecki, Jakub
Maystadt, Isabelle
Nagl, Sandra
Tinschert, Sigrid
Wohlleber, Eva
Reis, André
Rauch, Anita
Zweier, Christiane
Venue: BMC Medical Genetics
Publisher: Springer Science and Business Media LLC
Published: 2011-08-09
Volume: 12
Issue: 1
Pages: 106-106
ISSN: 1471-2350 (ISSN-L)
DOI: 10.1186/1471-2350-12-106
PMC: PMC3162517
OpenAlex: W2121619206
Cited by: 121
References: 33
Citations by year: 2026: 1 · 2025: 2 · 2024: 3 · 2023: 4 · 2022: 7 · 2021: 7 · 2020: 6 · 2019: 7 · 2018: 12 · 2017: 5 · 2016: 9 · 2015: 11 · 2014: 15 · 2013: 20 · 2012: 12
FWCI: 9.38
Type: journal article
Language: en
Open access: gold
doi.org
Licence: cc-by
www.springer.com/tdm (unspecified)
Locations: BMC Medical Genetics (publishedVersion, cc-by)
Europe PMC (PubMed Central) (publishedVersion, cc-by)
PubMed Central (publishedVersion, cc-by)
PubMed (publishedVersion)
Zurich Open Repository and Archive (University of Zurich) (acceptedVersion, cc-by)
DuEPublico (University of Duisburg-Essen) (submittedVersion, cc-by)
Data Archiving and Networked Services (DANS) (submittedVersion)
Leiden Repository (Leiden University) (submittedVersion)
Universitätsbibliographie, Universität Duisburg-Essen (submittedVersion)
DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
MPG.PuRe (Max Planck Society) (submittedVersion)
OPUS FAU (Kooperativer Bibliotheksverbund Berlin-Brandenburg (KOBV), on behalf of the Universitätsbibliothek Erlangen-Nürnberg) (submittedVersion, other-oa)
Apollo (University of Cambridge) (submittedVersion, cc-by)
Zurich Open Repository and Archive (University of Zurich)
Funders: Deutsche Forschungsgemeinschaft
Bundesministerium für Bildung und Forschung
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords: CNTNAP2, NRXN1, severe intellectual disability, heterozygous deletion, recessive inheritance, Pitt-Hopkins syndrome, splice site mutation, frameshift mutation, de novo mutations, second hit, carrier parents, phenotypic variability, neuropsychiatric disorders
MeSH terms: Adolescent, Alleles, Calcium-Binding Proteins, Child, Child Development Disorders, Pervasive, Child, Preschool, Female, Heterozygote, Humans, Hyperventilation, Karyotyping, Male, Membrane Proteins, Intellectual Disability, Nerve Tissue Proteins, Cell Adhesion Molecules, Neuronal, Frameshift Mutation, Gene Deletion, Codon, Terminator, Neural Cell Adhesion Molecules, Facies, RNA Splice Sites, Young Adult

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Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

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