P06.07 Germline mutation of SMARCE1 gene in a family with spinal meningiomas

2021 ◽  
Vol 23 (Supplement_2) ◽  
pp. ii25-ii25
Author(s):  
L Giunti ◽  
B Rinaldi ◽  
V Serio ◽  
A Buccoliero ◽  
E Fiorentini ◽  
...  
Keyword(s):  
Pediatric Brain Tumors ◽  
Suppressor Gene ◽  
Small Subset ◽  
Incomplete Penetrance ◽  
Asymptomatic Carriers ◽  
Whole Exome ◽  
Screening Protocol ◽  
And Gender ◽  
The Moment ◽  
Primary Intracranial Tumor

Abstract BACKGROUND Meningioma is the most common benign primary intracranial tumor, arising from arachnoid cells of the meninges, but in 20% of cases displays aggressive behavior. Meningiomas are mainly sporadic and the familial forms are very rare. Meningioma account for a small subset (1–4%) of all pediatric brain tumors and may be associated with hereditary tumor predisposition syndrome caused by germline mutations of NF2, SMARCB1, SUFU, and SMARCE1 genes. MATERIAL AND METHODS We present a case of a 16-year-old girl with spinal clear cell meningiomas (CCMs) WHO II with a second spinal lesion identified during the follow-up. Considering the multiple lesions, we performed Whole Exome Sequencing (WES) on DNA from peripheral blood to search for an underlying CCMs tumor predisposition syndrome (#607174). RESULTS We identified a heterozygous frameshift variant c.439delA (p.Ser147fs) in SMARCE1, chromatin remodelling factor that acts as a tumor suppressor gene. Meningioma analysis by Sanger sequencing showed a loss of heterozygosity (LOH) of the wild-type allele. We identified the c.439delA in the constitutional DNA of the father and the sister but not in the mother. At the moment, the father is asymptomatic and the 14 years old sister showed two spinal lesions (meningiomas likely) at the first MRI. CONCLUSION We report a family study of hereditary tumor predisposition syndrome to CCMs with SMARCE1 mutation in which are present two asymptomatic carriers with different ages and gender. The asymptomatic carriers will undergo neurological examination and MRI of the brain and spine, according to a screening protocol. The incomplete penetrance phenomenon is known in SMARCE1-related families with CCMs and it is probably due to the interaction of SMARCE1 with yet unidentified genes.

Molecular biology of the primitive neuroectodermal tumor: a review

1999 ◽  
Vol 7 (2) ◽  
pp. E4 ◽  
Author(s):  
Corey Raffel
Keyword(s):  
Tumor Suppressor ◽  
Molecular Biology ◽  
Tumor Suppressor Gene ◽  
Pediatric Brain Tumors ◽  
Suppressor Gene ◽  
Chromosome 17 ◽  
Neurotrophin Receptor ◽  
Small Subset ◽  
Beta Catenin ◽  
Tumor Type

In terms of its molecular biology and molecular genetics, medulloblastoma is the most thoroughly studied of the pediatric brain tumors. Alterations in chromosome 17, usually an isochromosome 17q, are the most common cytogenetic abnormalities. Similarly, deletion of the short arm of one 17 chromosome, the result of formation of an iso17q, is the most common molecular biological abnormality found. The gene or genes important in the development of medulloblastoma found on chromsome 17 have not yet been identified. Both a tumor suppressor gene and an oncogene have been identified that may play a role in the development of this tumor type. The Patched (PTC) tumor suppressor gene is inactivated in approximately 15% of medulloblatomas; this alteration may be specific to the desmoplastic variant. Oncogenic mutations in the beta-catenin gene are found in a small subset of medulloblastomas. Both of these genes play central roles in developmental pathways. Prognosis in this tumor type has been related to the level of expression of the neurotrophin receptor trkC. In this review, these and other molecular biological and genetic findings are discussed with respect to the development of medulloblastoma.

scholarly journals Genetic and metabolic characteristics of familial isolated pituitary adenomas

2013 ◽  
Vol 10 (2) ◽  
pp. 3-10 ◽  
Author(s):  
N S Dalantaeva ◽  
I I Dedov
Keyword(s):  
Pituitary Adenomas ◽  
Pituitary Tumors ◽  
Suppressor Gene ◽  
Carney Complex ◽  
Incomplete Penetrance ◽  
Chromosome 11 ◽  
Gene Encoding ◽  
Metabolic Characteristics ◽  
Aryl Hydrocarbon ◽  
Aip Gene

Familial isolated pituitary adenoma (FIPA) – a relatively new term for the disease, which is characterized by an autosomal dominant inheritance with incomplete penetrance, resulting in the development of pituitary tumors with no distinguishing features other endocrine diseases or syndromes, such as, for example, the syndrome multiple endocrine neoplasia type 1 (MEN-1 syndrome) or the Carney complex. FIPA-families account for about 2% of all cases of pituitary adenomas. Among the FIPA-family about 15–20% have mutations in the gene encoding the protein aryl hydrocarbon receptor. This suppressor gene located on the long arm of chromosome 11. Etiological gene for the rest of the greater percentage of FIPA-family is still unknown. Germline mutations in the AIP gene have also been found in patients with early development of pituitary adenomas, mainly secreting growth hormone, much rarely – prolactin and adrenocorticotropic hormone without a clear family history. Such cases are called "simple". Somatic mutations of the AIP gene in pituitary tumors or other sites has not yet been described

scholarly journals Identification of a novel pathogenic missense mutation in PRPF31 using whole exome sequencing: a case report

2018 ◽  
Vol 103 (6) ◽  
pp. 761-767 ◽  
Author(s):  
Laura Bryant ◽  
Olga Lozynska ◽  
Anson Marsh ◽  
Tyler E Papp ◽  
Lucas van Gorder ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Missense Mutation ◽  
Whole Exome Sequencing ◽  
Protein Trafficking ◽  
Protein Misfolding ◽  
Autosomal Dominant ◽  
Null Alleles ◽  
Incomplete Penetrance ◽  
Missense Mutations ◽  
Whole Exome

BackgroundVariants in PRPF31, which encodes pre-mRNA processing factor 31 homolog, are known to cause autosomal-dominant retinitis pigmentosa (adRP) with incomplete penetrance. However, the majority of mutations cause null alleles, with only two proven pathogenic missense mutations. We identified a novel missense mutation in PRPF31 in a family with adRP.MethodsWe performed whole exome sequencing to identify possible pathogenic mutations in the proband of a family with adRP. Available affected family members had a full ophthalmological evaluation including kinetic and two-colour dark adapted static perimetry, electroretinography and multimodal imaging of the retina. Two patients had evaluations covering nearly 20 years. We carried out segregation analysis of the probable mutation, PRPF31 c.590T>C. We evaluated the cellular localisation of the PRPF31 variant (p.Leu197Pro) compared with the wildtype PRPF31 protein.ResultsPRPF31 c.590T>C segregated with the disease in this four-generation autosomal dominant pedigree. There was intrafamilial variability in disease severity. Nyctalopia and mid-peripheral scotomas presented from the second to the fourth decade of life. There was severe rod >cone dysfunction. Visual acuity (VA) was relatively intact and was maintained until later in life, although with marked interocular asymmetries. Laboratory studies showed that the mutant PRPF31 protein (p.Leu197Pro) does not localise to the nucleus, unlike the wildtype PRPF31 protein. Instead, mutant protein resulted in punctate localisation to the cytoplasm.Conclusionsc.590T>C is a novel pathogenic variant in PRPF31 causing adRP with incomplete penetrance. Disease may be due to protein misfolding and associated abnormal protein trafficking to the nucleus.

The Queer Cyborg in Gigi Otálvaro-Hormillosa’s Cosmic Blood

2020 ◽  
pp. 90-106
Author(s):  
Gina K. Velasco
Keyword(s):  
Racial Difference ◽  
Video Art ◽  
Theoretical Framework ◽  
Post Colonial ◽  
American Artist ◽  
And Gender ◽  
Queer Diaspora ◽  
The Moment ◽  
First Contact

Chapter 4 draws on José Muñoz's Cruising Utopia as a theoretical framework for analyzing the cyborg as a utopian figure for a queer diaspora beyond the heteronormativity and masculinism of the nation. The performance and video art piece Cosmic Blood, by the queer Colombian and Filipina/o American artist Gigi Otálvaro-Hormillosa, challenges both (post)colonial taxonomies of racial difference and contemporary capitalist discourses that naturalize the labor of the racialized, gendered Filipina body. Cosmic Blood uses a science fictional mode to present a retelling of the moment of first contact between the colonizer and the colonized. The cyborg character functions both as a figure for racial and gender hybridity and as a figure for a queer diaspora beyond the familial ties of blood and kinship.

scholarly journals Correction: Whole exome sequencing reveals mutations in FAT1 tumor suppressor gene clinically impacting on peripheral T-cell lymphoma not otherwise specified

2019 ◽  
Vol 33 (2) ◽  
pp. 319-319
Author(s):  
Maria Antonella Laginestra ◽  
Luciano Cascione ◽  
Giovanna Motta ◽  
Fabio Fuligni ◽  
Claudio Agostinelli ◽  
...  
Keyword(s):  
T Cell ◽  
Tumor Suppressor ◽  
Exome Sequencing ◽  
Tumor Suppressor Gene ◽  
Whole Exome Sequencing ◽  
Cell Lymphoma ◽  
Suppressor Gene ◽  
Peripheral T Cell Lymphoma ◽  
Not Otherwise Specified ◽  
Whole Exome

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

scholarly journals Whole exome sequencing reveals mutations in FAT1 tumor suppressor gene clinically impacting on peripheral T-cell lymphoma not otherwise specified

2019 ◽  
Vol 33 (2) ◽  
pp. 179-187 ◽  
Author(s):  
Maria Antonella Laginestra ◽  
Luciano Cascione ◽  
Giovanna Motta ◽  
Fabio Fuligni ◽  
Claudio Agostinelli ◽  
...  
Keyword(s):  
T Cell ◽  
Tumor Suppressor ◽  
Exome Sequencing ◽  
Tumor Suppressor Gene ◽  
Whole Exome Sequencing ◽  
Cell Lymphoma ◽  
Suppressor Gene ◽  
Peripheral T Cell Lymphoma ◽  
Not Otherwise Specified ◽  
Whole Exome

Ranajit Guha’s Historiography of Colonial India

2018 ◽  
Author(s):  
Vasant Kaiwar
Keyword(s):  
Latin American ◽  
Western Europe ◽  
Subaltern Studies ◽  
Latin American History ◽  
Indian History ◽  
Bengali Literature ◽  
Wide Range ◽  
The World ◽  
And Gender ◽  
The Moment

Ranajit Guha is one of the best-known and most innovative historians of modern India. The bulk of his best-known work was published between 1981 and 2002. The main historiographical issues that appear in his work include (a) the colonial appropriation of the Indian past and its representation as a “highly interesting portion of British history,” which together with the force of colonial conquest added up in Guha’s terminology to a colonial expropriation of Indian history; (b) the complicity of all branches of colonialist knowledge in the fact or force of conquest; (c) British rule in India as a “dominance without hegemony,” in which the moment of coercion outweighed the moment of persuasion by contrast with western Europe; (d) an Indian historiography of India that attempts to redress the expropriation of Indian history and make “the Indian people, constituted as a nation, the subject of their own history”; (e) a subaltern historiography that identifies the limitations of the mainstream Indian historiography of India and the need to pay attention to the “neglected dimension of subaltern autonomy in action, consciousness and culture,” the “contribution made by the people on their own”; and (f) a historiography that goes beyond “statism” to the everyday being-in-the-world of ordinary people, countering the pretensions of the “prose of world-history” with the “prose of the world.” These issues recur in various forms and combinations in Guha’s books and essays, notably the ones he contributed to Subaltern Studies, an edited series that he launched in 1982. The theoretical influences on Guha’s work are not limited to Marxism and its many offshoots. Guha used the concept of “subaltern” to signify anyone in India who did not belong to the “elite” and therefore included peasants, workers, impoverished landlords, and others whose behavior exhibited a combination of defiance and deference to the elite. It has many points of contact with Gramsci’s work. Guha drew freely on the philosophy of Hegel and Heidegger, Bengali literature, notably the works of Rabindranath Tagore, not to mention semiotics, linguistics, structuralism, and poststructuralism, the objective being not theoretical monism or purity but the mobilization of a wide range of references to shed light on history’s dark corners. The eclectic richness, if not elusiveness, of the concept of “subaltern” and Guha’s deployment of it in various forms to speak to caste, class, and gender issues has perhaps inspired its wider diffusion for rethinking the history of popular consciousness and mobilization in fields as far apart as Asian, African, and Latin American history.

Birth Control and Socialism: The Frustration of Margaret Sanger and Ishimoto Shizue's Mission

2010 ◽  
Vol 17 (3) ◽  
pp. 257-280 ◽  
Author(s):  
Aiko Takeuchi-Demirci
Keyword(s):  
Birth Control ◽  
The United States ◽  
The Public ◽  
Western Model ◽  
Gender Biases ◽  
Birth Control Movement ◽  
Margaret Sanger ◽  
Original Goal ◽  
And Gender ◽  
The Moment

AbstractThis article explores the ties between the early birth control movements in the United States and Japan, both of which emerged from a transnational socialist network after the Russian Revolution of 1917. By closely examining the activism of two symbolic figures in the movements, Margaret Sanger (1879-1966) and Ishimoto Shizue (1897-2001), their roles abroad, and the public responses in both nations, the article studies the possibilities and limits of the transnational birth control movement in the 1920s and 1930s. It argues that, while the socialist network helped expand their original goal of relieving working women across the world from the dual burden of reproductive and wage labor, the moment they crossed national borders, they simultaneously became bound by nationalist frameworks and gender biases. Their liberal and reformist, rather than revolutionary, approaches to birth control based on the Western model of progress and the eugenic concept of racial survival ultimately blunted the dream of universal sisterhood and female liberation.

scholarly journals The Relationship of Gliomas with Tp53 Rs1042522 C > G And Gliomas in Duhok

2020 ◽  
Vol 23 (2) ◽  
pp. 157-165
Author(s):  
Farida F. A. Nerweyi
Keyword(s):  
Age Groups ◽  
Tp53 Gene ◽  
Suppressor Gene ◽  
Allele Frequencies ◽  
Pcr Analysis ◽  
Healthy Individuals ◽  
Tp53 Arg72pro ◽  
Gene Tp53 ◽  
And Gender ◽  
Tp53 Arg72pro Polymorphism

A tumor suppressor gene TP53 has a central role in controlling the cell cycle, apoptosis, as well as DNA damage repair. A common polymorphism in TP53 is the Arg72Pro exon 4 polymorphism. Polymorphism has been proposed to be associated with genetically determined susceptibility in different types of cancers, including glioma. This study was conducted to estimate the distribution of glioma within age groups, gender, smokers, and residence of individual also to investigate the distribution of TP53 Arg72Pro SNPs genotype in glioma, and determine whether TP53 Arg72Pro polymorphism is a possible relevance in susceptibility to glioma using RFLP-PCR analysis. Enrolled were 65 patients (glioma tissues matched age and gender) and 70 healthy individuals as a control. The findings in glioma samples 40(61.54%) were homozygous for arginine (Arg / Arg), 19 (29.23%) heterozygous for (Arg / Pro), and 6 (9.23%) homozygous for proline (Pro / Pro). Three separate frequencies of genotypes of Arg72Pro; 33 (47.14%), 28 (40.0), and 9 (12.86%) were identified in healthy individuals, respectively. The allele Frequencies for the Pro 72 and Arg 72 gliomas were 16 (24.62%) and 49 (75.38%), respectively. In the Pro 72 and Arg 72 controls, the allele frequencies were 23 (32.86%) and 47 (67.14%), respectively. Finally, there was no significant relationship between age group, gender, dwellers, non-smokers and smokers in different genotypes of codon 72 of TP53 gene (P < 0.05).

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