2p16.3 microdeletionAutism spectrum disorderThe spectrum of phenotypes associated with heterozygous deletions of neurexin-1 (NRXN1) is diverse and includes: autism spectrum disorder, attention deficit hyperactivity disorder, intellectual disability, seizures, schizophrenia, mood disorders and congenital ...
NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families. Eur J Med Genet. 2019;62:204–9. https://doi.org/10.1016/j. ejmg.2018.07.015. Avazzadeh et al. BMC Neurosci (2021) 22:56 Page 14 of 14 29. Flaherty E, Zhu S, Barretto...
and genotypes (bottom right) ofNRXN1cKO engineered brain organoids. A total of 10 samples were processed for deletion (Cre) control (Flp) –n = 1 for 3 weeks (3 wk) Cre and Flp;n = 2 for 2 months (2 mo Cre and Flp;n = 2 for 3.5 months (3.5 mo) Cre and Flp...
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a high co-morbidity of epilepsy and associated with hundreds of rare risk factors. NRXN1 deletion is among the commonest rare genetic factors shared by ASD, schizophrenia, intellectual
bothCNTNAP2andNRNX1;however, in most cases, the variant was inherited from a normal parent and no second mutation in the gene was identified. Therefore the full spectrum ofCNTNAP2andNRXN1disorders and their relationship to Pitt-Hopkins syndrome,autismspectrum disorders, or other learning ...
Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome. Hum Mol Genet 17: 4045–4053. Article CAS PubMed PubMed Central Google Scholar Bena F, Bruno DL, Eriksson M, van Ravenswaaij-Arts C, Stark Z, Dijkhuizen T et al (2013). Molecular and clinical ...
To further delineate the clinical phenotype associated with potentially recessive defects in any of the two genes, we screened a group of patients with either severe intellectual disability resembling Pitt-Hopkins syndrome or the phenotypes caused by recessiveCNTNAP2orNRXN1defects. Additionally, we perfo...
Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters.Neurexin 1NRXN1Pitt Hopkins syndromemental retardationepilepsyNeurexin 1 (NRXN1) is a cell adhesion protein, the normal function of which is critical for effective neurotransmission. It ...
An 380 kb deletion was identified in a woman with Asperger syndrome, anxiety, and depression and in all four of her children affected with autism, anxiety, developmental delay, and speech delay but not in an unaffected child. An 180 kb tandem duplication was found in a patient with autistic...
Homozygous exonic and intragenic NRXN1 deletion presenting as either West syndrome or autism spectrum disorder in two siblingsArray comparative genomic hybridizationEpilepsyNeurexin 1Pitt-Hopkins-like syndrome 2SeizuresNeurexins (NRXNs) are cell-adhesion molecules that play critical roles in establishing and...