Chromosome DeletionDiseases in TwinsGene DuplicationGenotypeHumansOligonucleotide Array Sequence AnalysisSchizophreniaSchizophrenic PsychologyIntroduction Over the last 2 years, several reports have suggested that submicroscopic chromosomal deletions that disrupt the gene neurexin 1 (NRXN1) increase the risk of ...
lesions are large deletions (up to ~1 Mb) affecting the long isoform NRXN1α specifically, as well asNRXN1α /βlesions affecting both the long and short isoforms. However, it remains unknown why or how the sameNRXN1deletion results in phenotypically distinct disorders in individuals. It is...
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 ...
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 ...
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 ...
Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality Author links open overlay panelMatti Lam a, Mohsen Moslem a 1, Julien Bryois b 1, Robin J. Pronk a, Elias Uhlin a, Ivar Dehnisch...
进一步地利用生物信息学分析方法对这些罕见CNVs区域内的基因进行筛选,评价该位点与孤独症的相关性以及对发病风险的贡献。孤独症是一种与神经发育有关的疾病,遗传学因素导致神经发育有关的蛋白质、酶、受体、神经递质等的异常表达,引起神经元增殖和分化异常,提供了孤独症易感性的生物学基础。因此,在进行生物信息学分析...
l,文摘业(Real—timePCR)技术进行验证。进步地利用叫:物信息学分析^法对这些罕见CNVs区域内的基斟进行筛选,评价该位点与孤独症的棚天。陀以及时发..
Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters. Neurexin 1 (NRXN1) is a cell adhesion protein, the normal function of which is critical for effective neurotransmission. It forms a trans-synaptic complex ... V Harrison,L Connell...
This model contains a biallelic deletion of the Neurexin 1 gene (Nrxn1). Mutations in Nrxn1 have been associated with autism spectrum disorders (ASD) and this model is useful for understanding the role of neurexins in the development of ASD. Origin: The Neurexin1 - Nrxn1 KO rat model was...