The Mechanism of Rap1 Regulates N-cadherin to Control Neuronal Migration

Yang, Ciqing; Li, Xiaoying; Zhang, Bichao; Fu, Shishun; Li, Shuanqing; Shen, Jianing; Guan, Lihong; Qiao, Liang; Lin, Juntang

doi:10.1007/s12031-019-01316-w

Cited by 3 publications

(2 citation statements)

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“…Deletions in LIN7A, a gene encoding a scaffold protein important for synaptic function, impact on the development of the cerebral cortex and result in ID [Matsumoto et al, 2014]. Regarding RAP1GAP, it encodes a GTPase-activating-protein acting as a negative regulator of RAP1, which is involved in cell proliferation, adhesion, differentiation, and embryogenesis and, specifically, in neuronal migration [Yang et al, 2019] and the regulation of dendritic spine morphology in the striatum [McAvoy et al, 2009] and the cortex [Chen et al, 2005]. RAP1GAP mediates aversive behaviors in the nucleus accumbens [Lin et al, 2020].…”

Section: Discussionmentioning

confidence: 99%

Delving into the Genetic Causes of Language Impairment in a Case of Partial Deletion of NRXN1

2022

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Introduction: Copy-number variations (CNVs) impacting on small DNA stretches and associated with language deficits provide a unique window to the role played by specific genes in language function. Methods: We report in detail on the cognitive, language, and genetic features of a girl bearing a small deletion (0.186 Mb) in the 2p16.3 region, arr[hg19] 2p16.3(50761778_50947729)×1, affecting exons 3–7 of NRXN1, a neurexin-coding gene previously related to schizophrenia, autism (ASD), attention deficit hyperactivity disorder (ADHD), mood disorder, and intellectual disability (ID). Results: The proband exhibits many of the features commonly found in subjects with deletions of NRXN1, like ASD-like traits (including ritualized behaviors, disordered sensory aspects, social disturbances, and impaired theory of mind), ADHD symptoms, moderate ID, and impaired speech and language. Regarding this latter aspect, we observed altered speech production, underdeveloped phonological awareness, minimal syntax, serious shortage of active vocabulary, impaired receptive language, and inappropriate pragmatic behavior (including lack of metapragmatic awareness and communicative use of gaze). Microarray analyses point to the dysregulation of several genes important for language function in the girl compared to her healthy parents. Discussion: Although some basic cognitive deficit – such as the impairment of executive function – might contribute to the language problems exhibited by the proband, molecular evidence suggests that they might result, to a great extent, from the abnormal expression of genes directly related to language.

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Section: Discussionmentioning

confidence: 99%

Delving into the Genetic Causes of Language Impairment in a Case of Partial Deletion of NRXN1

2022

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show abstract

“…Deletions in LIN7A, a gene encoding a scaffold protein important for synaptic function, impact on the development of the cerebral cortex and result in ID (Matsumoto et al, 2014). Regarding RAP1GAP, it encodes a GTPase-activating-protein acting as a negative regulator of RAP1, which is involved in cell proliferation, adhesion, differentiation, and embryogenesis, and specifically, in neuronal migration (Yang et al, 2019) and the regulation of dendritic spine morphology in the striatum (McAvoy et al, 2009) and the cortex (Chen et al, 2005). RAP1GAP mediates aversive behaviors in the nucleus accumbens (Lin et al, 2020).…”

Section: Discussionmentioning

confidence: 99%

Delving into the genetic causes of language impairment in people with partial deletions of NRXN1

Benítez‐Burraco¹,

Jiménez-Romero²,

Fernández-Urquiza³

2022

Preprint

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Copy-number variations (CNVs) impacting on small DNA stretches and that are associated to language deficits provide a unique window to the role played by specific genes in language function. We report in detail on the cognitive and language features of a girl bearing a small deletion (0,186 Mb) in the 2p16.3 region (arr[hg19] 2p16.3(50761778-50947729)x1), affecting to exons 3-7 of NRXN1, a neurexin-coding gene previously related to schizophrenia (SZ), autism (ASD), attention deficit hyperactivity disorder (ADHD), mood disorder, and intellectual disability (ID). The proband exhibits many of the features commonly found in subjects with deletions of NRXN1, like ASD-like traits (including ritualized behaviors, disordered sensory aspects, social disturbances and impaired theory of mind), ADHD symptoms, moderate ID, and impaired speech and language. Regarding this latter aspect, we observed altered speech production, underdeveloped phonological awareness, minimal syntax, serious shortage of active vocabulary, impaired receptive language, and inappropriate pragmatic behavior (including lack of metapragmatic awareness and communicative use of gaze). Although these problems might arise from some basic cognitive deficit, such as the impairment of executive function, we provide evidence that several genes important for language function are dysregulated in the proband compared to their healthy parents.

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Developmental vitamin D-deficiency increases the expression of microRNAs involved in dopamine neuron development

et al. 2022

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The Mechanism of Rap1 Regulates N-cadherin to Control Neuronal Migration

Cited by 3 publications

References 25 publications

Delving into the Genetic Causes of Language Impairment in a Case of Partial Deletion of NRXN1

Delving into the Genetic Causes of Language Impairment in a Case of Partial Deletion of NRXN1

Delving into the genetic causes of language impairment in people with partial deletions of NRXN1

Developmental vitamin D-deficiency increases the expression of microRNAs involved in dopamine neuron development

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