Cargando…

Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay

The contactin-associated protein-like 2 (CNTNAP2) gene is highly expressed in the frontal lobe circuits in the developing human brain. Mutations in this gene have been associated with several neurodevelopmental disorders such as autism and specific language impairment. Here we describe a 450 kb dele...

Descripción completa

Detalles Bibliográficos
Autores principales:	Al-Murrani, Amel, Ashton, Fern, Aftimos, Salim, George, Alice M., Love, Donald R.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi Publishing Corporation 2012
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3447220/ https://www.ncbi.nlm.nih.gov/pubmed/23074684 http://dx.doi.org/10.1155/2012/172408

Ejemplares similares

Pure Duplication of the Distal Long Arm of Chromosome 15 with Ebstein Anomaly and Clavicular Anomaly
por: O'Connor, Rachel, et al.
Publicado: (2011)

A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities
por: Singh, Shalinder, et al.
Publicado: (2012)

Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications
por: Rosenfeld, Jill A., et al.
Publicado: (2009)

Differential impacts of Cntnap2 heterozygosity and Cntnap2 null homozygosity on axon and myelinated fiber development in mouse
por: Cifuentes-Diaz, Carmen, et al.
Publicado: (2023)

A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features
por: Mc Cormack, Adrian, et al.
Publicado: (2014)

Defining the Contribution of CNTNAP2 to Autism Susceptibility
por: Sampath, Srirangan, et al.
Publicado: (2013)

Effect of CNTNAP2 polymorphism on receptive language in children with autism spectrum disorder without language developmental delay
por: Shiota, Yuka, et al.
Publicado: (2022)

CNTNAP2: exploring association with autism phenotypes in mice
Publicado: (2011)

Correction: Defining the Contribution of CNTNAP2 to Autism Susceptibility
por: Sampath, Srirangan, et al.
Publicado: (2013)

Association of GDNF and CNTNAP2 gene variants with gambling
por: Das, Arundhuti, et al.
Publicado: (2019)

Mutations of CNTNAP1 led to defects in neuronal development
por: Li, Wanxing, et al.
Publicado: (2020)

PTPRD and CNTNAP2 as markers of tumor aggressiveness in oligodendrogliomas
por: Rautajoki, Kirsi J., et al.
Publicado: (2022)

CNTNAP4 signaling regulates osteosarcoma disease progression
por: Qin, Qizhi, et al.
Publicado: (2023)

A Young Boy with 21q21.1 Microdeletion Showing Speech Delay, Spastic Diplegia, and MRI Abnormalities: Original Case Report
por: Pavone, Piero, et al.
Publicado: (2023)

Terminal 6q27 Microdeletion Syndrome: A Case Report
por: Ferreira Vieira, Maycoll, et al.
Publicado: (2022)

12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region
por: Mc Cormack, Adrian, et al.
Publicado: (2015)

Evaluation of CNTNAP2 gene polymorphisms for exfoliation syndrome in Japanese
por: Shimizu, Ai, et al.
Publicado: (2012)

CNTNAP2 and Language Processing in Healthy Individuals as Measured with ERPs
por: Kos, Miriam, et al.
Publicado: (2012)

CNTNAP2 stabilizes interneuron dendritic arbors through CASK
por: Gao, Ruoqi, et al.
Publicado: (2018)

CNTNAP4 deficiency in dopaminergic neurons initiates parkinsonian phenotypes
por: Zhang, Wenlong, et al.
Publicado: (2020)

Degraded tactile coding in the Cntnap2 mouse model of autism
por: Wang, Han Chin, et al.
Publicado: (2023)

4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay
por: Kawanami, Yukino, et al.
Publicado: (2023)

Speech Delay
por: Gordon, Neil
Publicado: (1969)

CNTNAP2 variants affect early language development in the general population
por: Whitehouse, A J O, et al.
Publicado: (2011)

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
por: Gregor, Anne, et al.
Publicado: (2011)

CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis
por: Hengel, Holger, et al.
Publicado: (2017)

Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants
por: Scala, Marcello, et al.
Publicado: (2021)

Neuroanatomical Alterations in the CNTNAP2 Mouse Model of Autism Spectrum Disorder
por: Gandhi, Tanya, et al.
Publicado: (2023)

Microdeletion syndromes
por: Datar, Chaitanya
Publicado: (2014)

Novel Missense CNTNAP2 Variant Identified in Two Consanguineous Pakistani Families With Developmental Delay, Epilepsy, Intellectual Disability, and Aggressive Behavior
por: Badshah, Noor, et al.
Publicado: (2022)

Group and individual variability in speech production networks during delayed auditory feedback
por: Agnew, Z. K., et al.
Publicado: (2018)

Delayed Speech in Children
por: Syme, W. S.
Publicado: (1907)

CNTNAP3 Associated ATG16L1 Expression and Crohn's Disease
por: Qiao, Yu Qi, et al.
Publicado: (2015)

Cntnap4/Caspr4 Differentially Contributes to GABAergic and Dopaminergic Synaptic Transmission
por: Karayannis, T., et al.
Publicado: (2014)

Dysregulation of Parvalbumin Expression in the Cntnap2−/− Mouse Model of Autism Spectrum Disorder
por: Lauber, Emanuel, et al.
Publicado: (2018)

CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review
por: Sabbagh, Sandra, et al.
Publicado: (2020)

A CNTNAP1 Missense Variant Is Associated with Canine Laryngeal Paralysis and Polyneuropathy
por: Letko, Anna, et al.
Publicado: (2020)

Pitt Hopkins-Like Syndrome 1 with Novel CNTNAP2 Mutation in Siblings
por: Mittal, Rea, et al.
Publicado: (2021)

Altered Cerebellar Response to Somatosensory Stimuli in the Cntnap2 Mouse Model of Autism
por: Fernández, Marta, et al.
Publicado: (2021)

Loss of ASD-Related Molecule Cntnap2 Affects Colonic Motility in Mice
por: Robinson, Beatriz G., et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_7t2h9jbnv5ga575kn7u7an666o