Functional Analysis of Phenotypic Behaviors of a 5-Year-Old Male with Novel 4q21 Microdeletion

Fee, Ashley; Noble, Nathan; Valdovinos, Maria G.

doi:10.1007/s40817-015-0006-4

Cited by 2 publications

(3 citation statements)

References 15 publications

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“…However, there were no articles found in available literature describing microduplications of exactly the same chromosome 4 regions. Finally, an analysis of phenotypic behaviors in a case of 4q21 microdeletion has shown the applicability of functional assessments in assessing and treating behaviors in known genetic/cytogenomic conditions [ 24 ] similar to our results.…”

Section: Introductionsupporting

confidence: 83%

4q21.2q21.3 Duplication: Molecular and Neuropsychological Aspects

Iourov

Zelenova

Vorsanova

et al. 2018

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During the last decades, a large amount of newly described microduplications and microdeletions associated with intellectual disability (ID) and related neuropsychiatric diseases have been discovered. However, due to natural limitations, a significant part of them has not been the focus of multidisciplinary approaches.Here, we address previously undescribed chromosome 4q21.2q21.3 microduplication for gene prioritization, evaluation of cognitive abilities and estimation of genomic mechanisms for brain dysfunction by molecular cytogenetic (cytogenomic) and gene expression (meta-) analyses as well as for neuropsychological assessment. We showed that duplication at 4q21.2q21.3 is associated with moderate ID, cognitive deficits, developmental delay, language impairment, memory and attention problems, facial dysmorphisms, congenital heart defect and dentinogenesis imperfecta. Gene-expression meta-analysis prioritized the following genes: ENOPH1, AFF1, DSPP, SPARCL1, and SPP1. Furthermore, genotype/phenotype correlations allowed the attribution of each gene gain to each phenotypic feature.Neuropsychological testing showed visual-perceptual and fine motor skill deficits, reduced attention span, deficits of the nominative function and problems in processing both visual and aural information. Finally, emerging approaches including molecular cytogenetic, bioinformatic (genome/epigenome meta-analysis) and neuropsychological methods are concluded to be required for comprehensive neurological, genetic and neuropsychological descriptions of new genomic rearrangements/diseases associated with ID.

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Section: Introductionsupporting

confidence: 83%

4q21.2q21.3 Duplication: Molecular and Neuropsychological Aspects

Iourov

Zelenova

Vorsanova

et al. 2018

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“…RASGEF1B (RasGEF domain family member 1B) has been identified as a positional candidate gene for dog rivalry in a genome‐wide association study across multiple dog breeds 51 . Several case studies have been carried out in humans on chromosomal diseases related to a microdeletion of loci homologous to the region on Chr 4 comprising the PRKG2 and RASGEF1B genes 52‐54 . The loss of these genes leads to growth restriction, aggression, self‐injurious behaviors and mental retardation in affected individuals.…”

Section: Resultsmentioning

confidence: 99%

“…51 Several case studies have been carried out in humans on chromosomal diseases related to a microdeletion of loci homologous to the region on Chr 4 comprising the PRKG2 and RASGEF1B genes. [52][53][54] The loss of these genes leads to growth restriction, aggression, self-injurious behaviors and mental retardation in affected individuals. The association analysis revealed a significant association between SNPs in this region and aggressive behavior toward strangers in the Swedish GSD population and PRKG2 has previously been reported as a top candidate gene for anxiety in mice.…”

Section: Selection Signatures Between Populationsmentioning

confidence: 99%

Unravelling selection signatures in a single dog breed suggests recent selection for morphological and behavioral traits

et al. 2020

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Strong selection has resulted in substantial morphological and behavioral diversity across modern dog breeds, which makes dogs interesting model animals to study the underlying genetic architecture of these traits. However, results from between-breed analyses may confound selection signatures for behavior and morphological features that were coselected during breed development. In this study, we assess population genetic differences in a unique resource of dogs of the same breed but with systematic behavioral selection in only one population. We exploit these different breeding backgrounds to identify signatures of recent selection. Selection signatures within populations were found on chromosomes 4 and 19, with the strongest signals in behavior-related genes. Regions showing strong signals of divergent selection were located on chromosomes 1, 24, and 32, and include candidate genes for both physical features and behavior. Some of the selection signatures appear to be driven by loci associated with coat color (Chr 24; ASIP) and length (Chr 32; FGF5), while others showed evidence of association with behavior. Our findings suggest that signatures of selection within dog breeds have been driven by selection for morphology and behavior. Furthermore, we demonstrate that combining selection scans with association analyses is effective for dissecting the traits under selection.

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Functional Analysis of Phenotypic Behaviors of a 5-Year-Old Male with Novel 4q21 Microdeletion

Cited by 2 publications

References 15 publications

4q21.2q21.3 Duplication: Molecular and Neuropsychological Aspects

4q21.2q21.3 Duplication: Molecular and Neuropsychological Aspects

Unravelling selection signatures in a single dog breed suggests recent selection for morphological and behavioral traits

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