Post-axial polydactyly type A2, overgrowth and autistic traits associated with a chromosome 13q31.3 microduplication encompassing miR-17-92 and GPC5

Kannu, Peter; Campos-Xavier, Ana Bélinda; Hull, Danna; Martinet, Danielle; Ballhausen, Diana; Bonafé, Luisa

doi:10.1016/j.ejmg.2013.06.001

Cited by 17 publications

(12 citation statements)

References 19 publications

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“…In this respect de Pontual et al and colleagues [20] stated that deletion of miR-17 ~ 92 plays a major role in skeletal defects and ruled out any involvement of the GCP5 gene. In contrast, Kannu et al recently reported a case with a larger microduplication but very similar gene content to our case [22]. Their patient had a 909-kb microduplication encompassing the same genes, including the entire miR17 ~ 92 cluster and first five exons of the GPC5 gene, exhibited post-axial polydactyly type A and overgrowth.…”

Section: Discussionsupporting

confidence: 55%

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Short stature, digit anomalies and dysmorphic facial features are associated with the duplication of miR-17 ~ 92 cluster

Hemmat

Rumple²,

Mahon

et al. 2014

Mol Cytogenet

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MicroRNAs (miRNAs) are key regulators of gene expression, playing important roles in development, homeostasis, and disease. Recent experimental evidence indicates that mutation or deregulation of the MIR17HG gene (miR-17 ~ 92 cluster) contributes to the pathogenesis of a variety of human diseases, including cancer and congenital developmental defects. We report on a 9-year-old boy who presented with developmental delay, autism spectrum disorder, short stature, mild macrocephaly, lower facial weakness, hypertelorism, downward slanting palpebral fissures, brachydactyly, and clinodactyly. SNP-microarray analysis revealed 516 kb microduplication at 13q31.3 involving the entire MIR17HG gene encoding the miR-17 ~ 92 polycistronic miRNA cluster, and the first five exons of the GPC5 gene. Family study confirmed that the microduplication was maternally inherited by the proband and one of his five half-brothers; digit and other skeletal anomalies were exclusive to the family members harboring the microduplication.This case represents the smallest reported microduplication to date at 13q31.3 and provides evidence supporting the important role of miR-17 ~ 92 gene dosage in normal growth and skeletal development. We postulate that any dosage abnormality of MIR17HG, either deletion or duplication, is sufficient to interrupt skeletal developmental pathway, with variable outcome from growth retardation to overgrowth.

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Section: Discussionsupporting

confidence: 55%

“…Kannu and colleagues recently reported a germline 912-kb duplication at 13q31.3, encompassing miR-17 ~ 92 and GPC5 , in a patient presenting with a post-axial polydactyly type A and overgrowth [22]. Here we describe a case involving the smallest miR-17 ~ 92 microduplication reported to date.…”

Section: Introductionmentioning

confidence: 80%

Short stature, digit anomalies and dysmorphic facial features are associated with the duplication of miR-17 ~ 92 cluster

Hemmat

Rumple²,

Mahon

et al. 2014

Mol Cytogenet

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“…Two of these studies identified the microduplication of the miR-17-92 cluster on chromosome 13q31.3-containing miR-17, miR18a, miR-19a, miR-19b-1, miR-20a, and miR-92a-1-in patients with autistic traits (64,65). Autistic traits also have been associated with miR-211 deletions and duplications at miRNA Dysregulation in Psychiatry (66).…”

Section: Asdsmentioning

confidence: 99%

MicroRNA and Posttranscriptional Dysregulation in Psychiatry

Geaghan

Cairns

2015

Biological Psychiatry

165

122

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Psychiatric syndromes, including schizophrenia, mood disorders, and autism spectrum disorders, are characterized by a complex range of symptoms, including psychosis, depression, mania, and cognitive deficits. Although the mechanisms driving pathophysiology are complex and remain largely unknown, advances in the understanding of gene association and gene networks are providing significant clues to their etiology. In recent years, small noncoding RNA molecules known as microRNA (miRNA) have emerged as potential players in the pathophysiology of mental illness. These small RNAs regulate hundreds of target transcripts by modifying their stability and translation on a broad scale, influencing entire gene networks in the process. There is evidence to suggest that numerous miRNAs are dysregulated in postmortem neuropathology of neuropsychiatric disorders, and there is strong genetic support for association of miRNA genes and their targets with these conditions. This review presents the accumulated evidence linking miRNA dysregulation and dysfunction with schizophrenia, bipolar disorder, major depressive disorder, and autism spectrum disorders and the potential of miRNAs as biomarkers or therapeutics for these disorders. We further assess the functional roles of some outstanding miRNAs associated with these conditions and how they may be influencing the development of psychiatric symptoms.

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“…Deletion of these genes causes a brachy-syndactyly syndrome (Feingold syndrome type II) [68, 69]. On the other hand, duplication of this gene causes variable skeletal phenotypes; one family shows skeletal overgrowth with polydactyly [70], whereas the other shows short stature and brachydactyly [71]. Mice hemizygous or homozygous for miR17-92 deletion showed reduced skeletal growth with delayed ossification of digital and skull bones [68].…”

Section: The Role Of Mirnas In Osteoblastsmentioning

confidence: 99%

MicroRNAs involved in bone formation

Papaioannou

Mirzamohammadi

Kobayashi

2014

Cell. Mol. Life Sci.

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During skeletal development, mesenchymal progenitor cells undergo a multistage differentiation process in which they proliferate and become bone- and cartilage-forming cells. This process is tightly regulated by multiple levels of regulatory systems. The small non-coding RNAs, microRNAs (miRNAs), post-transcriptionally regulate gene expression. Recent studies have demonstrated that miRNAs play significant roles in all stages of bone formation, suggesting the possibility that miRNAs can be novel therapeutic targets for skeletal diseases. Here, we review the role and mechanism of action of miRNAs in bone formation. We discuss roles of specific miRNAs in major types of bone cells, osteoblasts, chondrocytes, osteoclasts, and their progenitors. Except a few, the current knowledge about miRNAs in bone formation has been obtained mainly by in vitro studies; further validation of these findings in vivo is awaited. We also discuss about several miRNAs of particular interest in the light of future therapies of bone diseases.

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Post-axial polydactyly type A2, overgrowth and autistic traits associated with a chromosome 13q31.3 microduplication encompassing miR-17-92 and GPC5

Cited by 17 publications

References 19 publications

Short stature, digit anomalies and dysmorphic facial features are associated with the duplication of miR-17 ~ 92 cluster

Short stature, digit anomalies and dysmorphic facial features are associated with the duplication of miR-17 ~ 92 cluster

MicroRNA and Posttranscriptional Dysregulation in Psychiatry

MicroRNAs involved in bone formation

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