Access the full text.
Sign up today, get DeepDyve free for 14 days.
Loading next page...
/lp/wiley/genetics-genomics-and-genotype-phenotype-correlations-of-tsc-insights-10OjLts0Tx
References (64)
-
A. Peron, A. Vignoli, F. Briola, E. Morenghi, L. Tansini, R. Alfano, G. Bulfamante, S. Terraneo, F. Ghelma, G. Banderali, D. Viskochil, J. Carey, M. Canevini (2018)
Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2.European journal of medical genetics, 61 7
-
V. Rose, K. Au, Gretchen Pollom, E. Roach, H. Prashner, H. Northrup (1999)
Germ-line mosaicism in tuberous sclerosis: how common?American journal of human genetics, 64 4
-
Arthur Lima, M. Hoogeveen‐Westerveld, A. Nakashima, A. Maat-Kievit, A. Ouweland, D. Halley, U. Kikkawa, M. Nellist (2014)
Identification of Regions Critical for the Integrity of the TSC1-TSC2-TBC1D7 ComplexPLoS ONE, 9
-
E. Dunlop, K. Dodd, S. Land, P. Davies, Nicole Martins, H. Stuart, S. McKee, C. Kingswood, A. Saggar, I. Corderio, A. Medeira, H. Kingston, J. Sampson, D. Davies, A. Tee (2011)
Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidenceEuropean Journal of Human Genetics, 19
-
Sue Richards, Nazneen Aziz, S. Bale, D. Bick, Soma Das, J. Gastier-Foster, W. Grody, M. Hegde, E. Lyon, E. Spector, K. Voelkerding, H. Rehm (2015)
Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular PathologyGenetics in medicine : official journal of the American College of Medical Genetics, 17
-
Hubing Shi, G. Moriceau, Xiangjuan Kong, Mi-Kyung Lee, Hane Lee, R. Koya, Charles Ng, T. Chodon, R. Scolyer, B. Kimberly, Dahlman, J. Sosman, R. Kefford, G. Long, Stanley Nelson, A. Ribas, R. Lo (2016)
whole-exome sequencing identifies -
D. Kwiatkowski, Michael Palmer, S. Jóźwiak, J. Bissler, D. Franz, S. Segal, David Chen, J. Sampson (2015)
Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2European Journal of Human Genetics, 23
-
P. Roberts, S. Dabora, Elizabeth Thiele, David Franz, S. Jóźwiak, David Kwiatkowski (2004)
Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosisJournal of Medical Genetics, 41
-
S. Dabora, S. Jóźwiak, D. Franz, P. Roberts, A. Nieto, Joon Chung, Y. Choy, Y. Choy, M. Reeve, E. Thiele, J. Egelhoff, J. Kasprzyk‐Obara, D. Domanska-Pakiela, D. Kwiatkowski (2001)
Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.American journal of human genetics, 68 1
-
K. Giannikou, I. Malinowska, Trevor Pugh, Rachel Yan, Yuen-Yi Tseng, Coyin Oh, Jaegil Kim, M. Tyburczy, Y. Chekaluk, Yang Liu, N. Alesi, G. Finlay, Chin-Lee Wu, S. Signoretti, M. Meyerson, G. Getz, J. Boehm, E. Henske, D. Kwiatkowski (2016)
Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma DevelopmentPLoS Genetics, 12
-
M. Hoogeveen‐Westerveld, M. Wentink, D. Heuvel, Melika Mozaffari, R. Ekong, S. Povey, J. Dunnen, K. Metcalfe, Stephanie Vallee, S. Krueger, J. Bergoffen, V. Shashi, F. Elmslie, D. Kwiatkowski, J. Sampson, C. Vidales, Jacinta Dzarir, J. García-Planells, K. Dies, A. Maat-Kievit, A. Ouweland, D. Halley, M. Nellist (2011)
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis ComplexHuman Mutation, 32
-
O. Sancak, M. Nellist, M. Goedbloed, P. Elfferich, C. Wouters, A. Maat-Kievit, B. Zonnenberg, S. Verhoef, D. Halley, A. Ouweland (2005)
Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype – phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis ComplexEuropean Journal of Human Genetics, 13
-
M. Tyburczy, Ji‐an Wang, Shaowei Li, Rajesh Thangapazham, Y. Chekaluk, J. Moss, D. Kwiatkowski, T. Darling (2014)
Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex.Human molecular genetics, 23 8
-
A. Jansen, O. Sancak, M. D’Agostino, A. Badhwar, P. Roberts, G. Gobbi, R. Wilkinson, D. Melanson, D. Tampieri, R. Koenekoop, M. Gans, A. Maat-Kievit, M. Goedbloed, A. Ouweland, M. Nellist, M. Pandolfo, M. McQueen, K. Sims, E. Thiele, F. Dubeau, F. Andermann, D. Kwiatkowski, D. Halley, E. Andermann (2006)
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutationAnnals of Neurology, 60
-
K. Au, Aimee Williams, E. Roach, L. Batchelor, S. Sparagana, M. Delgado, J. Wheless, J. Baumgartner, B. Roa, Carolyn Wilson, Teresa Smith-Knuppel, Min-Yuen Cheung, V. Whittemore, T. King, H. Northrup (2007)
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United StatesGenetics in Medicine, 9
-
A. Bongaarts, K. Giannikou, Roy Reinten, J. Anink, J. Mills, F. Jansen, G.M Spliet, W. Dunnen, R. Coras, I. Blümcke, W. Paulus, T. Scholl, M. Feucht, K. Kotulska, S. Jóźwiak, A. Buccoliero, C. Caporalini, F. Giordano, L. Genitori, F. Söylemezoğlu, J. Pimentel, M. Nellist, A. Meeteren, Anwesha Nag, A. Mühlebner, D. Kwiatkowski, E. Aronica (2017)
Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutationsOncotarget, 8
-
J. Hayward, L. Chitty (2018)
Beyond screening for chromosomal abnormalities: Advances in non-invasive diagnosis of single gene disorders and fetal exome sequencing.Seminars in fetal & neonatal medicine, 23 2
-
T. Campos, Javiera Ziehe, F. Fuentes-Villalobos, Orlando Riquelme, D. Peña, Rodrigo Troncoso, S. Lavandero, V. Morín, R. Pincheira, A. Castro (2016)
Rapamycin requires AMPK activity and p27 expression for promoting autophagy-dependent Tsc2-null cell survival.Biochimica et biophysica acta, 1863 6 Pt A
-
L. Khare, Galina Strizheva, J. Bailey, K. Au, H. Northrup, Moyra Smith, S. Smalley, E. Henske (2001)
A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complexJournal of Medical Genetics, 38
-
H. Northrup, M.K. Koenig, D.A. Pearson, K.S. Au (2018)
GeneReviews® [internet] -
M. Nellist, D. Heuvel, Diane Schluep, C. Exalto, M. Goedbloed, A. Maat-Kievit, T. Essen, Karin Spaendonck-Zwarts, F. Jansen, P. Helderman, G. Bartalini, O. Vierimaa, M. Penttinen, J. Ende, A. Ouweland, D. Halley (2009)
Missense mutations to the TSC1 gene cause tuberous sclerosis complexEuropean Journal of Human Genetics, 17
-
R. Ekong, M. Nellist, M. Hoogeveen‐Westerveld, M. Wentink, J. Panzer, S. Sparagana, W. Emmett, N. Dawson, M. Malinge, R. Nabbout, C. Carbonara, M. Barberis, S. Padovan, M. Futema, V. Plagnol, S. Humphries, N. Migone, S. Povey (2016)
Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous SclerosisHuman Mutation, 37
-
Marjolein Wentink, M. Nellist, M. Hoogeveen‐Westerveld, Bernard Zonnenberg, D. Kolk, T. Essen, S.-M. Park, G. Woods, P. Cohn‐Hokke, W. Brussel, Eric Smeets, Alice Brooks, D. Halley, Amw Ouweland, Anneke Maat-Kievit (2012)
Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co‐segregates with tuberous sclerosis complex in mildly affected kindredsClinical Genetics, 81
-
N. Nathan, K. Keppler-Noreuil, L. Biesecker, J. Moss, T. Darling (2017)
Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway.Dermatologic clinics, 35 1
-
Joana Ribeiro, Filipe Palavra, Flávio Reis (2020)
Tuberous Sclerosis ComplexA Practical Approach to Stereo EEG
-
R. Zech, S. Kiontke, U. Mueller, Andrea Oeckinghaus, D. Kümmel (2016)
Structure of the Tuberous Sclerosis Complex 2 (TSC2) N Terminus Provides Insight into Complex Assembly and Tuberous Sclerosis Pathogenesis*The Journal of Biological Chemistry, 291
-
S. Camposano, Erica Greenberg, David Kwiatkowski, Elizabeth Thiele (2009)
Distinct clinical characteristics of Tuberous Sclerosis Complex patients with no mutation identifiedAnnals of Human Genetics, 73
-
Avihu Sofer, Kui Lei, Cory Johannessen, L. Ellisen (2005)
Regulation of mTOR and Cell Growth in Response to Energy Stress by REDD1Molecular and Cellular Biology, 25
-
I. Overwater, Rob Swenker, E. Ende, Kimberley Hanemaayer, M. Hoogeveen‐Westerveld, A. Eeghen, M. Lequin, A. Ouweland, H. Moll, M. Nellist, Marie‐Claire Wit (2016)
Genotype and brain pathology phenotype in children with tuberous sclerosis complexEuropean Journal of Human Genetics, 24
-
S. Uyeda, J. Sclater, M. Slegtenhorst, R. Hoogt, C. Hermans, M. Nellist, B. Janssen, S. Verhoef, D. Lindhout, A. Ouweland, D. Halley, Janet Young, Mariwyn Burley, Steve Jeremiah, K. Woodward, J. Nahmias, M. Fox, R. Ekong, J. Osborne, J. Wolfe, S. Povey, R. Snell, J. Cheadle, A. Jones, Maria Tachataki, D. Ravine, J. Sampson, M. Reeve, Paul Richardson, Friederike Wilmer, Cheryl Munro, T. Hawkins, T. Sepp, S. Ward, A. Green, J. Yates, J. Kwiatkowska, E. Henske, M. Short, J. Haines, S. Jóźwiak, D. Kwiatkowski (1997)
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.Science, 277 5327
-
L. Ellisen (2005)
Growth Control Under Stress: mTOR Regulation through the REDD1-TSC PathwayCell Cycle, 4
-
A. Eeghen, M. Nellist, E. Eeghen, E. Thiele (2013)
Central TSC2 missense mutations are associated with a reduced risk of infantile spasmsEpilepsy Research, 103
-
W. Qin, P. Kozłowski, B. Taillon, P. Bouffard, A. Holmes, P. Janne, S. Camposano, E. Thiele, D. Franz, D. Kwiatkowski (2010)
Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complexHuman Genetics, 127
-
H. Northrup, D. Krueger (2013)
Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference.Pediatric neurology, 49 4
-
Laura Farach, W. Gibson, S. Sparagana, M. Nellist, C. Stumpel, M. Hietala, Elliott Friedman, D. Pearson, S. Creighton, A. Wagemans, R. Segel, Efrat Ben-Shalom, K. Au, H. Northrup (2017)
TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complexAmerican Journal of Medical Genetics Part A, 173
-
P. Crino (2013)
Evolving neurobiology of tuberous sclerosis complexActa Neuropathologica, 125
-
Katie Martin, Wanding Zhou, M. Bowman, J. Shih, K. Au, Kristin Dittenhafer-Reed, Kellie Sisson, Julie Koeman, D. Weisenberger, S. Cottingham, S. Deroos, O. Devinsky, M. Winn, A. Cherniack, Hui Shen, H. Northrup, D. Krueger, J. MacKeigan (2017)
The genomic landscape of tuberous sclerosis complexNature Communications, 8
-
B. Ballif, Philippe Roux, S. Gerber, J. MacKeigan, J. Blenis, S. Gygi (2005)
Quantitative phosphorylation profiling of the ERK/p90 ribosomal S6 kinase-signaling cassette and its targets, the tuberous sclerosis tumor suppressors.Proceedings of the National Academy of Sciences of the United States of America, 102 3
-
Socratis Avgeris, F. Fostira, Andromachi Vagena, Yiannis Ninios, Angeliki Delimitsou, R. Vodicka, R. Vrtel, S. Youroukos, D. Stravopodis, M. Vlassi, A. Astrinidis, D. Yannoukakos, G. Voutsinas (2017)
Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from GreeceScientific Reports, 7
-
M. Nellist, B. Janssen, P. Brook-Carter, A. Hesseling-Janssen, M. Maheshwar, S. Verhoef, Ans Ouweland, D. Lindhout, B. Eussen, I. Cordeiro, H. Santos, D. Halley, J. Sampson, C. Ward, B. Peral, S. Thomas, J. Hughes, P. Harris, J. Roelfsema, J. Saris, L. Spruit, D. Peters, J. Dauwerse, M. Bruening (1993)
Identification and characterization of the tuberous sclerosis gene on chromosome 16Cell, 75
-
Guang Yang, Ze-ning Shi, Yan Meng, Xiu-Yu Shi, L. Pang, Shu-Fang Ma, Meng-Na Zhang, YanYan Wang, L. Zou (2017)
Phenotypic and genotypic characterization of Chinese children diagnosed with tuberous sclerosis complexClinical Genetics, 91
-
A. Alfaiz, L. Micale, B. Mandriani, B. Augello, M. Pellico, Jacqueline Chrast, I. Xenarios, L. Zelante, G. Merla, A. Reymond (2014)
TBC1D7 Mutations are Associated with Intellectual Disability, Macrocrania, Patellar Dislocation, and Celiac DiseaseHuman Mutation, 35
-
A. Fryer, J. Connor, S. Povey, J. Yates, A. Chalmers, I. Fraser, A.D Yates, J. Osborne (1987)
EVIDENCE THAT THE GENE FOR TUBEROUS SCLEROSIS IS ON CHROMOSOME 9The Lancet, 329
-
C. Hong, H. Tu, Jr-Rung Lin, C. Lee (2016)
An estimation of the incidence of tuberous sclerosis complex in a nationwide retrospective cohort study (1997–2010)British Journal of Dermatology, 174
-
C. Rosset, F. Vairo, I. Bandeira, Rudinei Correia, Fernanda Góes, R. Silva, L.S.M. Bueno, Mireille Gomes, H. Galvão, J. Neri, M. Achatz, C. Netto, P. Ashton-Prolla (2017)
Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosisPLoS ONE, 12
-
K. Inoki, H. Ouyang, Tianqing Zhu, C. Lindvall, Yian Wang, Xiaojie Zhang, Qian Yang, C. Bennett, Y. Harada, K. Stankunas, Cun-Yu Wang, Xi He, O. MacDougald, M. You, B. Williams, K. Guan (2006)
TSC2 Integrates Wnt and Energy Signals via a Coordinated Phosphorylation by AMPK and GSK3 to Regulate Cell GrowthCell, 126
-
K. Inoki, Yong Li, Tian Zhu, Jun Wu, K. Guan (2002)
TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signallingNature Cell Biology, 4
-
(1987)
NORTHRUP is a professor at the University of Texas Health Science Center at HoustonMcGovern Medical School -
S. Kothare, Kanwaljit Singh, J. Chalifoux, Brigid Staley, H. Weiner, Kimberly Menzer, O. Devinsky (2014)
Severity of manifestations in tuberous sclerosis complex in relation to genotypeEpilepsia, 55
-
Yu Gao, R. Gartenhaus, R. Lapidus, A. Hussain, Yanting Zhang, Xinghuan Wang, Han Dan (2015)
Differential IKK/NF-κB Activity Is Mediated by TSC2 through mTORC1 in PTEN-Null Prostate Cancer and Tuberous Sclerosis Complex Tumor CellsMolecular Cancer Research, 13
-
M. Nellist, R. Brouwer, C. Kockx, M. Veghel-Plandsoen, C. Withagen-Hermans, Lida Prins-Bakker, M. Hoogeveen‐Westerveld, Alan Mršić, M. Berg, Anna Koopmans, M. Wit, F. Jansen, A. Maat-Kievit, A. Ouweland, D. Halley, A. Klein, W. Ijcken (2015)
Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutationsBMC Medical Genetics, 16
-
Christian Dibble, Winfried Elis, Suchithra Menon, W. Qin, Justin Klekota, J. Asara, P. Finan, D. Kwiatkowski, Leon Murphy, B. Manning (2012)
TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1.Molecular cell, 47 4
-
Yong Zhang, Xinsheng Gao, L. Saucedo, B. Ru, B. Edgar, D. Pan (2003)
Rheb is a direct target of the tuberous sclerosis tumour suppressor proteinsNature Cell Biology, 5
-
K. Au, Adelaide Hebert, E. Roach, H. Northrup (1999)
Complete inactivation of the TSC2 gene leads to formation of hamartomas.American journal of human genetics, 65 6
-
G. Hoxhaj, J. Hughes-Hallett, Rebecca Timson, Erika Ilagan, Min Yuan, J. Asara, I. Ben-Sahra, B. Manning (2017)
The mTORC1 Signaling Network Senses Changes in Cellular Purine Nucleotide Levels.Cell reports, 21 5
-
M. Tyburczy, K. Dies, J. Glass, S. Camposano, Y. Chekaluk, A. Thorner, Ling Lin, D. Krueger, D. Franz, E. Thiele, M. Sahin, D. Kwiatkowski (2015)
Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional TestingPLoS Genetics, 11
-
P. Brook-Carter, B. Peral, C. Ward, P. Thompson, J. Hughes, M. Maheshwar, M. Nellist, V. Gamble, P. Harris, J. Sampson (1994)
Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease — a contiguous gene syndromeNature Genetics, 8
-
Jingxiang Huang, Shulin Wu, Chin-Lee Wu, B. Manning (2009)
Signaling events downstream of mammalian target of rapamycin complex 2 are attenuated in cells and tumors deficient for the tuberous sclerosis complex tumor suppressors.Cancer research, 69 15
-
Wei Sun, Ye Zhu, Zhizhi Wang, Q. Zhong, F. Gao, J. Lou, W. Gong, Wenqing Xu (2013)
Crystal structure of the yeast TSC1 core domain and implications for tuberous sclerosis pathological mutationsNature Communications, 4
-
Rajalaxmi Natarajan, Deepti Trivedi-Vyas, Y. Wairkar (2013)
Tuberous sclerosis complex regulates Drosophila neuromuscular junction growth via the TORC2/Akt pathway.Human molecular genetics, 22 10
-
M. Corradetti, K. Inoki, N. Bardeesy, R. DePinho, K. Guan (2004)
Regulation of the TSC pathway by LKB1: evidence of a molecular link between tuberous sclerosis complex and Peutz-Jeghers syndrome.Genes & development, 18 13
-
F. O'callaghan, A. Shiell, J. Osborne, C. Martyn (1998)
Prevalence of tuberous sclerosis estimated by capture-recapture analysisThe Lancet, 351
-
S. O’Connor, David Kwiatkowski, P. Roberts, Robert Wollmann, P. Huttenlocher (2003)
A family with seizures and minor features of tuberous sclerosis and a novel TSC2 mutationNeurology, 61
-
M. Hoogeveen‐Westerveld, R. Ekong, S. Povey, I. Karbassi, S. Batish, J. Dunnen, Agnies Eeghen, E. Thiele, K. Mayer, K. Dies, Li Wen, Catherine Thompson, S. Sparagana, Peter Davies, C. Aalfs, A. Ouweland, D. Halley, M. Nellist (2012)
Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complexHuman Mutation, 33
- Publisher
- Wiley
- Copyright
- © 2018 Wiley Periodicals, Inc.
- ISSN
- 1552-4868
- eISSN
- 1552-4876
- DOI
- 10.1002/ajmg.c.31651
- Publisher site
- See Article on Publisher Site
Abstract
Tuberous Sclerosis Complex (TSC) is a multisystem autosomal dominant condition caused by inactivating pathogenic variants in either the TSC1 or the TSC2 gene, leading to hyperactivation of the mTOR pathway. Here, we present an update on the genetic and genomic aspects of TSC, with a focus on clinical and laboratory practice. We briefly summarize the structure of TSC1 and TSC2 as well as their protein products, and discuss current diagnostic testing, addressing mosaicism. We consider genotype–phenotype correlations as an example of precision medicine, and discuss genetic counseling in TSC, with the aim of providing geneticists and health care practitioners involved in the care of TSC individuals with useful tools for their practice.
Journal
American Journal of Medical Genetics – Wiley
Published: Sep 1, 2018
Keywords: ; ; ; ; ;