De novo t(7;10)(q33;q23) translocation and closely juxtaposed microdeletion in a patient with macrocephaly and developmental delay

Yue, Y.; Grossmann, Bärbel; Holder, Susan; Haaf, Thomas

doi:10.1007/s00439-005-1273-4

Cited by 23 publications

(20 citation statements)

References 29 publications

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“…Liu et al have already noted the PI3-kinase-and AKT-independent effects of nuclear-targeted PTEN, although they found PTEN phosphatase activity to be required for G1 arrest and for inhibition of soft agar growth . Additional mechanisms underlying PTEN alterations have also just been uncovered, including promoter mutations in GBM (Tunca et al, 2007), translocations in thyroid cancer (Puxeddu et al, 2005) and Cowden syndrome (CS)-like disease (Yue et al, 2005), and splicing mutations in Bannayan-RileyRuvalcaba syndromes (BRRS) (Suphapeetiporn et al, 2006), CS (Agrawal et al, 2005) and sporadic breast cancers (Agrawal and Eng, 2006). Furthermore, a micro-RNA that could target PTEN (miR-21) has been shown to be highly expressed in human cholangiocarcinoma cell lines (Meng et al, 2006) and hepatocellular carcinoma (Meng et al, 2007).…”

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confidence: 99%

New insights into PTEN

Tamgüney

Stokoe

2007

Journal of Cell Science

223

216

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The functions ascribed to PTEN have become more diverse since its discovery as a putative phosphatase mutated in many human tumors. Although it can dephosphorylate lipids and proteins, it also has functions independent of phosphatase activity in normal and pathological states. In addition, control of PTEN function is very complex. It is positively and negatively regulated at the transcriptional level, as well as post-translationally by phosphorylation, ubiquitylation, oxidation and acetylation. Although most of its tumor suppressor activity is likely to be caused by lipid dephosphorylation at the plasma membrane, PTEN also resides in the cytoplasm and nucleus, and its subcellular distribution is under strict control. Deregulation of PTEN function is implicated in other human diseases in addition to cancer, including diabetes and autism. Journal of Cell Science 4072 and protein levels (but decreases phosphorylation of PTEN at S370 and S385, and its stability), and the ability of SPRY2 to restrain proliferation is abolished in PTEN-negative cells (Edwin et al., 2006).Resistin, a cytokine involved in inflammation and insulin resistance, increases PTEN expression in human aortic vascular endothelial cells by activating p38 MAPK and activating transcription factor 2 (ATF2), which leads to decreased activation of PKB and of its target, endothelial nitric oxide synthase (eNOS, also known as NOS3). This provides a potential mechanism for resistin-mediated impairment of insulin signaling and of its role in cardiovascular diseases (Shen et al., 2006). Furthermore, phytoestrogens such as genistein (in soy), resveratrol (in red wine) and quercetin (in fruit and vegetables) also lead to increased PTEN expression, with a concomitant decrease in phospho-PKB levels and increase in levels of the CDK inhibitor p27 (Waite et al., 2005). Epidemiological data suggest that phytoestrogen consumption can protect against cancer (Park and Surh, 2004;Verheus et al., 2007). Upregulation of PTEN expression might therefore be one basis for these beneficial effects. Indeed, mammary glands of rats fed with soy protein or a genistein-supplemented diet display higher PTEN levels and a higher apoptotic index (Dave et al., 2005). The same is true for MCF-7 cells cultured in serum from such rats (Dave et al., 2005). Similarly, indole-3-carbinol, a phytochemical derived from cruciferous vegetables such as broccoli, upregulates PTEN expression in the cervical epithelium in a mouse model for cervical cancer (Qi et al., 2005). Negative regulation of PTEN transcriptionMost of the data so far have demonstrated positive regulation of PTEN transcription. Negative regulation of PTEN expression has also been shown, however (Fig. 1). Mitogenactivated protein kinase kinase-4 (MKK4) inhibits PTEN transcription by activating NFB, which binds to a site in the PTEN promoter (Xia et al., 2007). Transforming growth factor (TGF)␤ also decreases PTEN transcription in pancreatic cancer cells (Chow et al., 2007) , 2006). Phytoestrogens, such as genistein from soybea...

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confidence: 99%

New insights into PTEN

Tamgüney

Stokoe

2007

Journal of Cell Science

223

216

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“…Amplification of larger (10 -15 kb) BAC subfragments was carried out with a series of primer pairs (Table 2) chosen from the genomic sequence of BAC RP11-463M16, as described previously. 13,14 Genomic BAC DNAs and their long-range PCR products were labeled with biotin-16-dUTP or digoxigenin-11-dUTP (Roche) by standard nick translation and FISH mapped on metaphase chromosomes. 15 …”

Section: Classical and Molecular Cytogenetic Techniquesmentioning

confidence: 99%

De novo t(12;17)(p13.3;q21.3) translocation with a breakpoint near the 5′ end of the HOXB gene cluster in a patient with developmental delay and skeletal malformations

Yue

Farcas

Thiel³

et al. 2007

Eur J Hum Genet

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A boy with severe mental retardation, funnel chest, bell-shaped thorax, and hexadactyly of both feet was found to have a balanced de novo t(12;17)(p13.3;q21.3) translocation. FISH with BAC clones and longrange PCR products assessed in the human genome sequence localized the breakpoint on chromosome 17q21.3 to a 21-kb segment that lies o30 kb upstream of the HOXB gene cluster and immediately adjacent to the 3 0 end of the TTLL6 gene. The breakpoint on chromosome 12 occurred within telomeric hexamer repeats and, therefore, is not likely to affect gene function directly. We propose that juxtaposition of the HOXB cluster to a repetitive DNA domain and/or separation from required cis-regulatory elements gave rise to a position effect.

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“…The fact that this SNP was found in the normally hearing father and paternal grandfather of our proband also argues against a dominant causative mutation, although the formal possibility of reduced penetrance in unaffected family members cannot be excluded. In some cases of apparently balanced chromosome rearrangements, microdeletions and/or duplications in the vicinity of the breakpoint regions [Yue et al, 2005] or elsewhere in the genome [Baptista et al, 2008] were found to be disease-causing. The SNP array analysis did not reveal any cryptic gain or loss of chromosome material in the proband (data not shown).…”

Section: Targeted Next Generation Sequencing Of Deafness Genes and Snmentioning

confidence: 99%

Disruption of the ATE1 and SLC12A1 Genes by Balanced Translocation in a Boy with Non-Syndromic Hearing Loss

Vona¹,

Neuner²,

Hajj³

et al. 2013

Mol Syndromol

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We report on a boy with non-syndromic hearing loss and an apparently balanced translocation t(10;15)(q26.13;q21.1). The same translocation was found in the normally hearing brother, father and paternal grandfather; however, this does not exclude its involvement in disease pathogenesis, for example, by unmasking a second mutation. Breakpoint analysis via FISH with BAC clones and long-range PCR products revealed a disruption of the arginyltransferase 1 (ATE1) gene on translocation chromosome 10 and the solute carrier family 12, member 1 gene (SLC12A1) on translocation chromosome 15. SNP array analysis revealed neither loss nor gain of chromosomal regions in the affected child, and a targeted gene enrichment panel consisting of 130 known deafness genes was negative for pathogenic mutations. The expression patterns in zebrafish and humans did not provide evidence for ear-specific functions of the ATE1 and SLC12A1 genes. Sanger sequencing of the 2 genes in the boy and 180 GJB2 mutation-negative hearing-impaired individuals did not detect homozygous or compound heterozygous pathogenic mutations. Our study demonstrates the many difficulties in unraveling the molecular causes of a heterogeneous phenotype. We cannot directly implicate disruption of ATE1 and/or SLC12A1 to the abnormal hearing phenotype; however, mutations in these genes may have a role in polygenic or multifactorial forms of hearing impairment. On the other hand, it is conceivable that our patient carries a disease-causing mutation in a so far unidentified deafness gene. Evidently, disruption of ATE1 and/or SLC12A1 gene function alone does not have adverse effects.

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De novo t(7;10)(q33;q23) translocation and closely juxtaposed microdeletion in a patient with macrocephaly and developmental delay

Cited by 23 publications

References 29 publications

New insights into PTEN

New insights into PTEN

De novo t(12;17)(p13.3;q21.3) translocation with a breakpoint near the 5′ end of the HOXB gene cluster in a patient with developmental delay and skeletal malformations

Disruption of the ATE1 and SLC12A1 Genes by Balanced Translocation in a Boy with Non-Syndromic Hearing Loss

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