3. Pak, C. et al. Human neuropsychiatric disease modeling using conditional deletion reveals synaptic transmission defects caused by heterozygous mutations in NRXN1.Cell Stem Cell17, 316–328 (2015). 4. Flaherty, E. et al. Neuronal ...
Additional pathogenic rare variants were four times more common in intronic (n = 6/19; 31.6%) compared to exonic (n = 3/41; 7.3%) NRXN1 deletion cases.ConclusionsThe expression of exonic NRXN1 deletions is primarily neuropsychiatric and may be associated with comorbid intellectual disability ...
NRXN1 deletion is among the commonest rare genetic factors shared by ASD, schizophrenia, intellectual disability, epilepsy, and developmental delay. However, how NRXN1 deletions lead to different clinical symptoms is unknown. Patient-derived cells are essential to investigate the functional consequences ...
NRXN1encodes a cell-surface receptor that bindsneuroliginsto form a Ca(2+)-dependent neurexin/neuroligin complex at CNSsynapses. Zahir et al.[236]reported a boy with a de novo deletion encompassingNRXN1with autistic and other features while Kim et al.[108]found such a deletion in both father...
To test whetherNRXN1deletion induces changes in alternative splicing programs in neurons, we explored a previously published bulk RNA sequencing dataset generated from mature glutamatergic excitatory induced neurons (iNs) from the same set of donor derived iPSC lines and an engineeredNRXN1cKO iPSC line...
The pathogenicity of these deletions may also be affected by the location of the deletion within the gene. Counseling should appropriately represent this spectrum of possibilities when discussing recurrence risks or expectations for a child found to have a deletion in NRXN1. 2013 Wiley Periodicals, ...
Conclusions NRXN1 deletion is a major rare risk factor in ASD. In this study NRXN1α+/- neurons derived from iPSCs of three ASD patients were shown to display an increase in excita- bility, which was well co-related with our recent evidence of increased calcium transients [51]. This is...
One of the nine parents carrying a NRXN1 deletion (father of E4) had no history of neuropsychiatric phenotypes and no history of cognitive impair- ment or learning deficits. We compared indications provided at the time of submission for CMA testing among this cohort to the indications provided ...
Sebat et al first reported the association of the de HOYO CNVs and autism.Subsequently a study based on autism pedigree found a593kb deletion located in 16p l1.2,which was validated by other three study groups.CNVs regions associated with autism contains anumber of novel autism—related genes,...
Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs. Am J Hum Genet 92: 375–386. Article CAS PubMed PubMed Central Google Scholar Dabell MP, Rosenfeld JA, Bader P, Escobar LF, El-Khechen D, Vallee SE et al...