A case of exudative vitreoretinopathy and chorioretinal coloboma associated with microcephaly in a female with contiguous Xp11.3-11.4 deletion

Hinds, Anne-Marie; Rosser, Elisabeth; Reddy, M. Ashwin

doi:10.1080/13816810.2018.1443342

Cited by 3 publications

(2 citation statements)

References 9 publications

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“…Patient 2 had a fever and seizure after vaccination, while no seizure was detected in patient of the same mutation (Hayashi et al., 2012). Based on 41 female cases of our research and previously published results (Bozarth et al., 2018; DeLuca et al., 2017; Hayashi et al., 2012, 2017; Hinds et al., 2018; LaConte et al., ,2018, 2019) ‐ , we found seizure in eight patients. CASK alterations in these patients included point mutations, intragenic duplications, and fragment deletions involving CASK .…”

Section: Discussionsupporting

confidence: 62%

Microcephaly, disproportionate pontine, and cerebellar hypoplasia syndrome: Two novel mutations in the CASK gene were discovered in Chinese females

Zhao

Hou

Wang

et al. 2021

Intl J of Devlp Neuroscience

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Microcephaly, disproportionate pontine and cerebellar hypoplasia (MICPCH) syndrome is a rare and genetic disorder, which is mainly caused by mutations in the CASK gene. We described four variations in the CASK gene in Chinese female patients with MICPCH, who presented with microcephaly, developmental delay, and motor disorder. The CASK mutations were identified using NGS (the next‐generation sequencing), copy number variation sequencing. Two novel variations in the CASK gene were revealed including a frameshift mutation c.1000_1001insG (p.Asp334GlyfsTer32) and a nonsense mutation c.2110A > T (p.Lys704Ter). Two other aberrations were c.316C > T (p.Arg106Ter) and Xp11.4‐p11.3 (41,700,001–44,660,000) × 1 loss. We provided clinical manifestations and neuroimaging findings of the four patients. The genetic variation spectrum of MICPCH caused by CASK was updated. Furthermore, we expounded on the molecular mechanism of the disease and noticed that it was not possible to relate the magnitude of the genetic alteration to a particular phenotype.

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Section: Discussionsupporting

confidence: 62%

Microcephaly, disproportionate pontine, and cerebellar hypoplasia syndrome: Two novel mutations in the CASK gene were discovered in Chinese females

Zhao

Hou

Wang

et al. 2021

Intl J of Devlp Neuroscience

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“…ASD is a heterogeneous group of neurodevelopmental disorders, characterized by early-onset deficits in social interaction and communication skills, together with restricted, repetitive behavior. Defects in DDX3X function in humans is associated with brain and behavioral abnormalities, microcephaly, facial dysmorphism, hypotonia, aggression and movement disorders and/or spasticity in female and probably in male [59,[76][77][78][79][80][81][82][83][84][85]. The finding of a sexual dimorphic autism related protein specifically in the striatum is of particular interest because defects in striatal circuitry are known to cause autism-like phenotypes [86].…”

Section: Discussionmentioning

confidence: 99%

Proteomic Analysis of Brain Region and Sex-Specific Synaptic Protein Expression in the Adult Mouse Brain

Distler

Schumann

Kesseler

et al. 2020

Cells

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Genetic disruption of synaptic proteins results in a whole variety of human neuropsychiatric disorders including intellectual disability, schizophrenia or autism spectrum disorder (ASD). In a wide range of these so-called synaptopathies a sex bias in prevalence and clinical course has been reported. Using an unbiased proteomic approach, we analyzed the proteome at the interaction site of the pre- and postsynaptic compartment, in the prefrontal cortex, hippocampus, striatum and cerebellum of male and female adult C57BL/6J mice. We were able to reveal a specific repertoire of synaptic proteins in different brain areas as it has been implied before. Additionally, we found a region-specific set of novel synaptic proteins differentially expressed between male and female individuals including the strong ASD candidates DDX3X, KMT2C, MYH10 and SET. Being the first comprehensive analysis of brain region-specific synaptic proteomes from male and female mice, our study provides crucial information on sex-specific differences in the molecular anatomy of the synapse. Our efforts should serve as a neurobiological framework to better understand the influence of sex on synapse biology in both health and disease.

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Neurogenetics, Genome-Wide Association and Candidate Gene Studies

Haller

2020

Neurobiopsychosocial Perspectives on Aggression and Violence

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A case of exudative vitreoretinopathy and chorioretinal coloboma associated with microcephaly in a female with contiguous Xp11.3-11.4 deletion

Cited by 3 publications

References 9 publications

Microcephaly, disproportionate pontine, and cerebellar hypoplasia syndrome: Two novel mutations in the CASK gene were discovered in Chinese females

Microcephaly, disproportionate pontine, and cerebellar hypoplasia syndrome: Two novel mutations in the CASK gene were discovered in Chinese females

Proteomic Analysis of Brain Region and Sex-Specific Synaptic Protein Expression in the Adult Mouse Brain

Neurogenetics, Genome-Wide Association and Candidate Gene Studies

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