Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion.

Barber, John; Ellis, Katrina; Bowles, L.; Delhanty, Jda; Ede, R; Male, B. M.; Eccles, D.

doi:10.1136/jmg.31.4.312

Cited by 56 publications

(55 citation statements)

References 17 publications

(4 reference statements)

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“…Significantly, the single locus with the highest frequency of de novo LOF mutations in genome-wide sequencing studies of ASD is chromodomain helicase DNA-binding protein 8 (CHD8), encoding a DNA helicase that co-regulates many Wnt/β-catenin transcriptional targets [261,262,263,264,265]. Other genetic evidence supports roles for several core Wnt/β-catenin pathway loci in the genetics of ASD including WNT1 [240], WNT2 [266], WNT3 [267], WNT7A [268], APC [241,269,270], CTNNB1 (β-catenin) [263,271], TCF4 [272,273], and TCF7 [261]. This review has highlighted the critical roles these genes play during neural development.…”

Section: Human Genomic Studiesmentioning

confidence: 99%

Neurodevelopmental Perspectives on Wnt Signaling in Psychiatry

Mulligan

Cheyette

2016

Complex Psychiatry

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Mounting evidence indicates that Wnt signaling is relevant to pathophysiology of diverse mental illnesses including schizophrenia, bipolar disorder, and autism spectrum disorder. In the 35 years since Wnt ligands were first described, animal studies have richly explored how downstream Wnt signaling pathways affect an array of neurodevelopmental processes and how their disruption can lead to both neurological and behavioral phenotypes. Recently, human induced pluripotent stem cell (hiPSC) models have begun to contribute to this literature while pushing it in increasingly translational directions. Simultaneously, large-scale human genomic studies are providing evidence that sequence variation in Wnt signal pathway genes contributes to pathogenesis in several psychiatric disorders. This article reviews neurodevelopmental and postneurodevelopmental functions of Wnt signaling, highlighting mechanisms, whereby its disruption might contribute to psychiatric illness, and then reviews the most reliable recent genetic evidence supporting that mutations in Wnt pathway genes contribute to psychiatric illness. We are proponents of the notion that studies in animal and hiPSC models informed by the human genetic data combined with the deep knowledge base and tool kits generated over the last several decades of basic neurodevelopmental research will yield near-term tangible advances in neuropsychiatry.

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Section: Human Genomic Studiesmentioning

confidence: 99%

Neurodevelopmental Perspectives on Wnt Signaling in Psychiatry

Mulligan

Cheyette

2016

Complex Psychiatry

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“…[10][11][12][13][14] Within these cases the frequency of extracolonic manifestations, including subcutaneous lesions, mandibular osteomata and desmoid tumours, are similar to those observed in FAP induced by other types of mutation. 14 Here we describe three FAP families with 5q submicroscopic deletions encompassing the APC and DP1 genes. One of these deletions encompasses also the MCC gene, a tumour suppressor gene that is mutated in sporadic colon cancer.…”

Section: Introductionmentioning

confidence: 99%

“…[9][10][11][12][13][14][15][16]18 Mental retardation and/or facial dysmorphism have also been described. [10][11][12][13][14] Within these cases the frequency of extracolonic manifestations, including subcutaneous lesions, mandibular osteomata and desmoid tumours, are similar to those observed in FAP induced by other types of mutation. 14 Here we describe three FAP families with 5q submicroscopic deletions encompassing the APC and DP1 genes.…”

Section: Introductionmentioning

confidence: 99%

“…[6][7][8] Due to the inherent difficulty in detecting gene deletions, interstitial 5q deletions that encompass the APC gene have been identified in very few FAP patients. [9][10][11][12][13][14][15][16] So far, large deletions account for about 2% of the identified germline mutations. An intragenic APC deletion of 300 bp has recently been described in an Italian polyposis patient.…”

Section: Introductionmentioning

confidence: 99%

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Three submicroscopic deletions at the APC locus and their rapid detection by quantitative-PCR analysis

et al. 1999

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We describe three unrelated kindreds, affected by familial adenomatous polyposis (FAP), with 5q submicroscopic deletions that encompass the entire adenomatous polyposis coli (APC) gene and the adjacent DP1 gene. In one family the deletion encompasses also the MCC (mutated in colon cancer) gene. Affected members of these families had dysplastic adenomatous polyps and congenital hypertrophy of the retinal pigment epithelium (CHRPE); no individual was affected by mental retardation or facial dysmorphism. The deletions were detected by linkage analysis with several intragenic and closely flanking polymorphic markers and confirmed by a quantitative PCR analysis. This procedure could have an impact on the detection of the molecular defect in FAP patients in whom mutational analysis fails to identify the specific mutation.

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“…Copyright © 2013 S. Karger AG, Basel Intrachromosomal insertions are uncommon rearrangements and the cytogenetic recognition of these structurally rearranged chromosomes can be difficult and easily mistaken for inversions [Madan and Menko, 1992;Henry et al, 1993; Gardner and Sutherland, 2004;Ardalan et al, 2005]. Around 40 cases of intrachromosomal insertions have been published so far [Madan and Menko, 1992;Henry et al, 1993;Barber et al, 1994; TuckMuller et al, 1996;Goss et al, 1998;Park et al, 1998;Friedrich et al, 2000;Starke et al, 2001;Engelen et al, 2003;Collinson et al, 2004;Ardalan et al, 2005;Lybaek et al, 2009;Wang et al, 2010]. …”

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confidence: 99%

Partial Trisomy 2p and Partial Monosomy 2q Arising from a Paternal Intrachromosomal 2q-into-2p Between-Arm Insertion and Paracentric Inversion: Molecular Cytogenetic Characterization of a Four-Break Rearrangement

Manolakos¹,

Vetro

Papadopoulou

et al. 2013

Cytogenet Genome Res

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We report on a 26-month-old boy with an interstitial duplication of 2p22.3p22.2 and an interstitial deletion of 2q14.1q21.2. The abnormality was derived from his father having a balanced paracentric inversion and pericentric insertion. The deletion in the child was identified by cytogenetic analysis and characterized in more detail by molecular cytogenetics and array comparative genomic hybridization. The latter revealed a 20-Mb deletion in the long arm and a 5.6-Mb duplication in the short arm of chromosome 2. Fluorescence in situ hybridization in paternal chromosomes characterized an intrachromosomal insertion of 2q14.1q21.2 into 2p23; additionally a paracentric inversion of 2p13p23 was observed. The boy with the unbalanced karyotype suffered from severe psychomotor retardation, thrombophilia due to protein C deficiency, and hypertrophic cardiomyopathy and also had phenotypic abnormalities. Most of these features have previously been described in individuals with interstitial deletion of 2q14.1.

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Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion.

Cited by 56 publications

References 17 publications

Neurodevelopmental Perspectives on Wnt Signaling in Psychiatry

Neurodevelopmental Perspectives on Wnt Signaling in Psychiatry

Three submicroscopic deletions at the APC locus and their rapid detection by quantitative-PCR analysis

Partial Trisomy 2p and Partial Monosomy 2q Arising from a Paternal Intrachromosomal 2q-into-2p Between-Arm Insertion and Paracentric Inversion: Molecular Cytogenetic Characterization of a Four-Break Rearrangement

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