Dataset Information

Deletion of TOP3B Is Associated with Cognitive Impairment and Facial Dysmorphism.

ABSTRACT: Deletions of different regions of chromosome 22q11 have been extensively characterized in the literature, with a recent review outlining common deletions with a standardized system proposed for classification and nomenclature. The genotype-phenotype relationships have not been sufficiently elucidated for these deletions, and it remains unclear which specific genes play the dominant roles in producing associated clinical features. Several deletions involve entirely distinct regions of chromosome 22q11 but do not overlap, suggesting that a number of different genes contribute to the clinical features. Studies of patients with small deletions involving only 1 or 2 genes may provide more convincing evidence for the impact of individual genes on the observed phenotype. In this case report, we present a 12-year-old female with autism, cognitive impairment, dysmorphic features, and behavioral concerns and a 268-kb deletion of chromosome 22q11.22 including TOP3B, the only recognized disease-causing gene in the deletion. The mechanism of pathogenesis contributing significantly to our patient's clinical findings may relate to interaction between TOP3B and fragile X mental retardation protein (FMRP), an mRNA-binding protein that regulates translation and is altered in fragile X syndrome, a condition involving developmental delay, learning disability, and autism. All these features are recognized in our patient.

SUBMITTER: Kaufman CS

PROVIDER: S-EPMC7343397 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature

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Deletion of TOP3B Is Associated with Cognitive Impairment and Facial Dysmorphism.

Kaufman Carolyn S CS Genovese Ann A Butler Merlin G MG

Cytogenetic and genome research 20161124 2

Deletions of different regions of chromosome 22q11 have been extensively characterized in the literature, with a recent review outlining common deletions with a standardized system proposed for classification and nomenclature. The genotype-phenotype relationships have not been sufficiently elucidated for these deletions, and it remains unclear which specific genes play the dominant roles in producing associated clinical features. Several deletions involve entirely distinct regions of chromosome ...[more]

PMID: 27880953

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Project description:Differences in expressing facial emotions are broadly observed in people with cognitive impairment. However, these differences have been difficult to objectively quantify and systematically evaluate among people with cognitive impairment across disease etiologies and severity. Therefore, a computer vision-based deep learning model for facial emotion recognition trained on 400.000 faces was utilized to analyze facial emotions expressed during a passive viewing memory test. In addition, this study was conducted on a large number of individuals (n = 493), including healthy controls and individuals with cognitive impairment due to diverse underlying etiologies and across different disease stages. Diagnoses included subjective cognitive impairment, Mild Cognitive Impairment (MCI) due to AD, MCI due to other etiologies, dementia due to Alzheimer's diseases (AD), and dementia due to other etiologies (e.g., Vascular Dementia, Frontotemporal Dementia, Lewy Body Dementia, etc.). The Montreal Cognitive Assessment (MoCA) was used to evaluate cognitive performance across all participants. A participant with a score of less than or equal to 24 was considered cognitively impaired (CI). Compared to cognitively unimpaired (CU) participants, CI participants expressed significantly less positive emotions, more negative emotions, and higher facial expressiveness during the test. In addition, classification analysis revealed that facial emotions expressed during the test allowed effective differentiation of CI from CU participants, largely independent of sex, race, age, education level, mood, and eye movements (derived from an eye-tracking-based digital biomarker for cognitive impairment). No screening methods reliably differentiated the underlying etiology of the cognitive impairment. The findings provide quantitative and comprehensive evidence that the expression of facial emotions is significantly different in people with cognitive impairment, and suggests this may be a useful tool for passive screening of cognitive impairment.

Dataset Information

Deletion of TOP3B Is Associated with Cognitive Impairment and Facial Dysmorphism.

Publications

Deletion of TOP3B Is Associated with Cognitive Impairment and Facial Dysmorphism.

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