Copy number variation and susceptibility to human disorders (Review)

Shastry, Barkur S.

doi:10.3892/mmr_00000074

Cited by 10 publications

(10 citation statements)

References 54 publications

(71 reference statements)

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“…Since the 1998 review that coined and defined the term “genomic disorders” [18], a multitude of genomic disorders caused by genomic rearrangements have been identified [19], and many of them manifest neurological features, including mental impairments, autistic features, and psychiatric disorders [20,21]. This finding is because there are many dosage-sensitive genes related to nervous system functions.…”

Section: Discussionmentioning

confidence: 99%

De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features

et al. 2013

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BackgroundTriplication is a rare chromosomal anomaly. We identified a de novo triplication of 11q12.3 in a patient with developmental delay, distinctive facial features, and others. In the present study, we discuss the mechanism of triplications that are not embedded within duplications and potential genes which may contribute to the phenotype.ResultsThe identified triplication of 11q12.3 was 557 kb long and not embedded within the duplicated regions. The aberrant region was overlapped with the segment reported to be duplicated in 2 other patients. The common phenotypic features in the present patient and the previously reported patient were brain developmental delay, finger abnormalities (including arachnodactuly, camptodactyly, brachydactyly, clinodactyly, and broad thumbs), and preauricular pits.ConclusionsTriplications that are not embedded within duplicated regions are rare and sometimes observed as the consequence of non-allelic homologous recombination. The de novo triplication identified in the present study is novel and not embedded within the duplicated region. In the 11q12.3 region, many copy number variations were observed in the database. This may be the trigger of this rare triplication. Because the shortest region of overlap contained 2 candidate genes, STX5 and CHRM1, which show some relevance to neuronal functions, we believe that the genomic copy number gains of these genes may be responsible for the neurological features seen in these patients.

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Section: Discussionmentioning

confidence: 99%

De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features

et al. 2013

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“…Consequently, from an evolutionary standpoint, the low degree of CNV 4 inheritance might reinforce the concept of chromosome stability in this disease phenotype. Indeed, the functional impact of most CNVs remains poorly characterized [32, 33] and our current knowledge regarding CNVs and their heritability is still rudimentary, due to their location in regions of complex genomic structure and to the technical limitations of association studies [34, 35]. Taken together, with the important exception of CNV 4 , our data suggest that CNVs shared among KDS patients display typical Mendelian inheritance.…”

Section: Discussionmentioning

confidence: 74%

Observations on Copy Number Variations in a Kidney‐yang Deficiency Syndrome Family

Liu

Gao

Zhou

et al. 2011

Evidence-Based Complementary and Alternative Medicine

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We have performed an analysis of a family with kidney-yang deficiency syndrome (KDS) in order to determine the structural genomic variations through a novel approach designated as “copy number variants” (CNVs). Twelve KDS subjects and three healthy spouses from this family were included in this study. Genomic DNA samples were genotyped utilizing an Affymetrix 100 K single nucleotide polymorphism array, and CNVs were identified by Copy Number Algorithm (CNAT4.0, Affymetrix). Our results demonstrate that 447 deleted and 476 duplicated CNVs are shared among KDS subjects within the family. The homologus ratio of deleted CNVs was as high as 99.78%. One-copy-duplicated CNVs display mid-range homology. For two copies of duplicated CNVs (CNV4), a markedly heterologous ratio was observed. Therefore, with the important exception of CNV4, our data shows that CNVs shared among KDS subjects display typical Mendelian inheritance. A total of 113 genes with established functions were identified from the CNV flanks; significantly enriched genes surrounding CNVs may contribute to certain adaptive benefit. These genes could be classified into categories including: binding and transporter, cell cycle, signal transduction, biogenesis, nerve development, metabolism regulation and immune response. They can also be included into three pathways, that is, signal transduction, metabolic processes and immunological networks. Particularly, the results reported here are consistent with the extensive impairments observed in KDS patients, involving the mass-energy-information-carrying network. In conclusion, this article provides the first set of CNVs from KDS patients that will facilitate our further understanding of the genetic basis of KDS and will allow novel strategies for a rational therapy of this disease.

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“…Функциональные полиморфные участки, имеющие фенотипическое выражение и значимо связанные с клиническим проявлением заболевания, могут служить в качестве ценных генетических маркеров [20].…”

Section: генетические маркеры и методы их анализаunclassified

Genetic aspects of schizophrenia

Morozova

Зубков

Zorkina

et al. 2017

Z. nevrol. psikhiatr. im. S.S. Korsakova

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Schizophrenia is a disease with a complex non-Mendelian inheritance mechanism in most cases involving the combined action of a large number of genes. Identifying of genomic variations associated with schizophrenia endophenotypes has a great potential. This review describes genetic markers of the disease, current methods of their analysis, including genome-wide association study (GWAS). Certain genes with mutations that increase the risk of schizophrenia are described. Functional polymorphisms with phenotypic expression, which are significantly associated with clinical manifestation of schizophrenia, can serve as useful genetic markers. The authors highlight that currently there are no certain susceptibility genes. Further global research and search for markers in different population groups are needed.

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Copy number variation and susceptibility to human disorders (Review)

Cited by 10 publications

References 54 publications

De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features

De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features

Observations on Copy Number Variations in a Kidney‐yang Deficiency Syndrome Family

Genetic aspects of schizophrenia

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