Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions.

Tanja Mußotter; Lan Kluwe; Josef Högel; Rosa Nguyen; David N Cooper; Viktor Felix Mautner; Hildegard Kehrer-Sawatzki

doi:10.1186/1471-2350-13-98

Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions.

Standard

Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions. / Mußotter, Tanja; Kluwe, Lan; Högel, Josef; Nguyen, Rosa; Cooper, David N; Mautner, Viktor Felix; Kehrer-Sawatzki, Hildegard.

In: BMC MED GENET, Vol. 13, 2012, p. 98.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Mußotter, T, Kluwe, L, Högel, J, Nguyen, R, Cooper, DN, Mautner, VF & Kehrer-Sawatzki, H 2012, 'Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions.', BMC MED GENET, vol. 13, pp. 98. https://doi.org/10.1186/1471-2350-13-98

APA

Mußotter, T., Kluwe, L., Högel, J., Nguyen, R., Cooper, D. N., Mautner, V. F., & Kehrer-Sawatzki, H. (2012). Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions. BMC MED GENET, 13, 98. https://doi.org/10.1186/1471-2350-13-98

Vancouver

Mußotter T, Kluwe L, Högel J, Nguyen R, Cooper DN, Mautner VF et al. Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions. BMC MED GENET. 2012;13:98. https://doi.org/10.1186/1471-2350-13-98

Bibtex

@article{a1c0f5c64b79496ebff06ca8a8445a43,

title = "Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions.",

abstract = "Neurofibromatosis type-1 (NF1) is caused by mutations of the NF1 gene at 17q11.2. In 95% of non-founder NF1 patients, NF1 mutations are identifiable by means of a comprehensive mutation analysis. 5-10% of these patients harbour microdeletions encompassing the NF1 gene and its flanking regions. NF1 is characterised by tumours of the peripheral nerve sheaths, the pathognomonic neurofibromas. Considerable inter- and intra-familial variation in expressivity of the disease has been observed which is influenced by genetic modifiers unrelated to the constitutional NF1 mutation. The number of plexiform neurofibromas (PNF) in NF1 patients is a highly heritable genetic trait. Recently, SNP rs2151280 located within the non-coding RNA gene ANRIL at 9p21.3, was identified as being strongly associated with PNF number in a family-based association study. The T-allele of rs2151280, which correlates with reduced ANRIL expression, appears to be associated with higher PNF number. ANRIL directly binds to the SUZ12 protein, an essential component of polycomb repressive complex 2, and is required for SUZ12 occupancy of the CDKN2A/CDKN2B tumour suppressor genes as well as for their epigenetic silencing.",

keywords = "Adult, Humans, Male, Female, Middle Aged, Adolescent, Young Adult, Child, Child, Preschool, Genotype, Gene Deletion, Genetic Predisposition to Disease, Mutation, Phenotype, Gene Expression Regulation, Neoplastic, Polymorphism, Single Nucleotide, Genetic Association Studies, *Genes, Neurofibromatosis 1, Neurofibromatosis 1/*genetics, Cyclin-Dependent Kinase Inhibitor p15/genetics, Cyclin-Dependent Kinase Inhibitor p16/genetics, Neurofibroma, Plexiform/*genetics, Polycomb Repressive Complex 2/genetics, RNA, Long Untranslated/*genetics, Adult, Humans, Male, Female, Middle Aged, Adolescent, Young Adult, Child, Child, Preschool, Genotype, Gene Deletion, Genetic Predisposition to Disease, Mutation, Phenotype, Gene Expression Regulation, Neoplastic, Polymorphism, Single Nucleotide, Genetic Association Studies, *Genes, Neurofibromatosis 1, Neurofibromatosis 1/*genetics, Cyclin-Dependent Kinase Inhibitor p15/genetics, Cyclin-Dependent Kinase Inhibitor p16/genetics, Neurofibroma, Plexiform/*genetics, Polycomb Repressive Complex 2/genetics, RNA, Long Untranslated/*genetics",

author = "Tanja Mu{\ss}otter and Lan Kluwe and Josef H{\"o}gel and Rosa Nguyen and Cooper, {David N} and Mautner, {Viktor Felix} and Hildegard Kehrer-Sawatzki",

year = "2012",

doi = "10.1186/1471-2350-13-98",

language = "English",

volume = "13",

pages = "98",

journal = "BMC MED GENET",

issn = "1471-2350",

publisher = "BioMed Central Ltd.",

}

RIS

TY - JOUR

T1 - Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions.

AU - Mußotter, Tanja

AU - Kluwe, Lan

AU - Högel, Josef

AU - Nguyen, Rosa

AU - Cooper, David N

AU - Mautner, Viktor Felix

AU - Kehrer-Sawatzki, Hildegard

PY - 2012

Y1 - 2012

N2 - Neurofibromatosis type-1 (NF1) is caused by mutations of the NF1 gene at 17q11.2. In 95% of non-founder NF1 patients, NF1 mutations are identifiable by means of a comprehensive mutation analysis. 5-10% of these patients harbour microdeletions encompassing the NF1 gene and its flanking regions. NF1 is characterised by tumours of the peripheral nerve sheaths, the pathognomonic neurofibromas. Considerable inter- and intra-familial variation in expressivity of the disease has been observed which is influenced by genetic modifiers unrelated to the constitutional NF1 mutation. The number of plexiform neurofibromas (PNF) in NF1 patients is a highly heritable genetic trait. Recently, SNP rs2151280 located within the non-coding RNA gene ANRIL at 9p21.3, was identified as being strongly associated with PNF number in a family-based association study. The T-allele of rs2151280, which correlates with reduced ANRIL expression, appears to be associated with higher PNF number. ANRIL directly binds to the SUZ12 protein, an essential component of polycomb repressive complex 2, and is required for SUZ12 occupancy of the CDKN2A/CDKN2B tumour suppressor genes as well as for their epigenetic silencing.

AB - Neurofibromatosis type-1 (NF1) is caused by mutations of the NF1 gene at 17q11.2. In 95% of non-founder NF1 patients, NF1 mutations are identifiable by means of a comprehensive mutation analysis. 5-10% of these patients harbour microdeletions encompassing the NF1 gene and its flanking regions. NF1 is characterised by tumours of the peripheral nerve sheaths, the pathognomonic neurofibromas. Considerable inter- and intra-familial variation in expressivity of the disease has been observed which is influenced by genetic modifiers unrelated to the constitutional NF1 mutation. The number of plexiform neurofibromas (PNF) in NF1 patients is a highly heritable genetic trait. Recently, SNP rs2151280 located within the non-coding RNA gene ANRIL at 9p21.3, was identified as being strongly associated with PNF number in a family-based association study. The T-allele of rs2151280, which correlates with reduced ANRIL expression, appears to be associated with higher PNF number. ANRIL directly binds to the SUZ12 protein, an essential component of polycomb repressive complex 2, and is required for SUZ12 occupancy of the CDKN2A/CDKN2B tumour suppressor genes as well as for their epigenetic silencing.

KW - Adult

KW - Humans

KW - Male

KW - Female

KW - Middle Aged

KW - Adolescent

KW - Young Adult

KW - Child

KW - Child, Preschool

KW - Genotype

KW - Gene Deletion

KW - Genetic Predisposition to Disease

KW - Mutation

KW - Phenotype

KW - Gene Expression Regulation, Neoplastic

KW - Polymorphism, Single Nucleotide

KW - Genetic Association Studies

KW - Genes, Neurofibromatosis 1

KW - Neurofibromatosis 1/genetics

KW - Cyclin-Dependent Kinase Inhibitor p15/genetics

KW - Cyclin-Dependent Kinase Inhibitor p16/genetics

KW - Neurofibroma, Plexiform/genetics

KW - Polycomb Repressive Complex 2/genetics

KW - RNA, Long Untranslated/genetics