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R. Bell, G. Brice, A. Child, V. Murday, S. Mansour, C. Sandy, J. Collin, A. Brady, D. Callen, K. Burnand, Peter Mortimer, S. Jeffery (2001)
Analysis of lymphoedema-distichiasis families forFOXC2 mutations reveals small insertions and deletions throughout the geneHuman Genetics, 108
Sarah Ng, Emily Turner, P. Robertson, Steven Flygare, A. Bigham, Choli Lee, Tristan Shaffer, Michelle Wong, Arindam Bhattacharjee, Evan Eichler, Michael Bamshad, Deborah Nickerson, Jay Shendure (2009)
Targeted capture and massively parallel sequencing of 12 human exomes
P. Ostergaard, M. Simpson, G. Brice, S. Mansour, F. Connell, A. Onoufriadis, A. Child, Jae Hwang, K. Kalidas, P. Mortimer, R. Trembath, S. Jeffery (2011)
Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotypeJournal of Medical Genetics, 48
M. Alders, B. Hogan, E. Gjini, Faranak Salehi, L. Al-Gazali, E. Hennekam, E. Holmberg, M. Mannens, M. Mulder, G. Offerhaus, T. Prescott, E. Schroor, J. Verheij, Merlijn Witte, P. Zwijnenburg, M. Vikkula, S. Schulte-Merker, R. Hennekam (2009)
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humansNature Genetics, 41
M. Karkkainen, R. Ferrell, E. Lawrence, M. Kimak, Kara Levinson, M. McTigue, K. Alitalo, D. Finegold (2000)
Missense mutations interfere with VEGFR-3 signalling in primary lymphoedemaNature Genetics, 25
Camilla Norrmén, T. Tammela, T. Petrova, K. Alitalo (2011)
Biological Basis of Therapeutic LymphangiogenesisCirculation, 123
Sarah Ng, A. Bigham, K. Buckingham, M. Hannibal, M. McMillin, Heidi Gildersleeve, A. Beck, H. Tabor, G. Cooper, H. Mefford, Choli Lee, Emily Turner, Joshua Smith, M. Rieder, K. Yoshiura, N. Matsumoto, T. Ohta, N. Niikawa, D. Nickerson, M. Bamshad, J. Shendure (2010)
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndromeNature genetics, 42
Janel Johnson, Janel Johnson, J. Gibbs, J. Gibbs, L. Maldergem, H. Houlden, A. Singleton (2010)
Exome sequencing in Brown-Vialetto-van Laere syndrome.American journal of human genetics, 87 4
J. Mangion, N. Rahman, S. Mansour, G. Brice, J. Rosbotham, A. Child, V. Murday, Peter Mortimer, R. Barfoot, A. Sigurdsson, S. Edkins, M. Sarfarazi, K. Burnand, A. Evans, T. Nunan, M. Stratton, S. Jeffery (1999)
A gene for lymphedema-distichiasis maps to 16q24.3.American journal of human genetics, 65 2
A. Hoischen, B. Bon, C. Gilissen, P. Arts, Bart Lier, M. Steehouwer, P. Vries, R. Reuver, Nienke Wieskamp, G. Mortier, K. Devriendt, Marta Amorim, N. Revencu, A. Kidd, M. Barbosa, A. Turner, Janine Smith, C. Oley, A. Henderson, I. Hayes, E. Thompson, H. Brunner, B. Vries, J. Veltman (2010)
De novo mutations of SETBP1 cause Schinzel-Giedion syndromeNature Genetics, 42
R. Hennekam, R. Geerdink, B. Hamel, F. Hennekam, P. Kraus, J. Rammeloo, A. Tillemans (1989)
Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation.American journal of medical genetics, 34 4
C. Sholto-Douglas-Vernon, R. Bell, G. Brice, S. Mansour, M. Sarfarazi, A. Child, Alberto Smith, R. Mellor, K. Burnand, P. Mortimer, S. Jeffery (2005)
Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutationsHuman Genetics, 117
A. Irrthum, M. Karkkainen, K. Devriendt, K. Alitalo, M. Vikkula (2000)
Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase.American journal of human genetics, 67 2
A. Gnirke, Alexandre Melnikov, J. Maguire, Peter Rogov, E. Leproust, W. Brockman, T. Fennell, G. Giannoukos, Sheila Fisher, C. Russ, S. Gabriel, D. Jaffe, E. Lander, C. Nusbaum (2009)
Solution Hybrid Selection with Ultra-long Oligonucleotides for Massively Parallel Targeted SequencingNature biotechnology, 27
G. Brice, A. Child, A. Evans, R. Bell, S. Mansour, K. Burnand, M. Sarfarazi, S. Jeffery, Peter Mortimer (2005)
Milroy disease and the VEGFR-3 mutation phenotypeJournal of Medical Genetics, 42
M. Simpson, M. Irving, E. Asilmaz, M. Gray, D. Dafou, F. Elmslie, S. Mansour, S. Holder, C. Brain, Barbara Burton, Katherine Kim, R. Pauli, S. Aftimos, H. Stewart, C. Kim, M. Holder‐Espinasse, S. Robertson, W. Drake, R. Trembath (2011)
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone lossNature Genetics, 43
A. Irrthum, K. Devriendt, D. Chitayat, G. Matthijs, C. Glade, P. Steijlen, J. Fryns, M. Steensel, M. Vikkula (2003)
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.American journal of human genetics, 72 6
Dystrophie oedemateuse hereditaire
Ji Fang, S. Dagenais, R. Erickson, M. Arlt, M. Glynn, J. Gorski, L. Seaver, T. Glover (2000)
Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome.American journal of human genetics, 67 6
A. Evans, G. Brice, V. Sotirova, Peter Mortimer, Joseph Beninson, Kevin Burnand, Jane Rosbotham, Anne Child, M. Sarfarazi (1999)
Mapping of primary congenital lymphedema to the 5q35.3 region.American journal of human genetics, 64 2
Sarah Ng, K. Buckingham, Choli Lee, A. Bigham, H. Tabor, K. Dent, C. Huff, P. Shannon, E. Jabs, D. Nickerson, J. Shendure, M. Bamshad (2009)
Exome sequencing identifies the cause of a Mendelian disorderNature genetics, 42
I. Lazareth (2002)
[Classification of lymphedema].La Revue de medecine interne, 23 Suppl 3
C. Holberg, R. Erickson, M. Bernas, M. Witte, K. Fultz, M. Andrade, C. Witte (2001)
Segregation analyses and a genome-wide linkage search confirm genetic heterogeneity and suggest oligogenic inheritance in some Milroy congenital primary lymphedema families.American journal of medical genetics, 98 4
B. Hogan, F. Bos, J. Bussmann, Merlijn Witte, N. Chi, H. Duckers, S. Schulte-Merker (2009)
ccbe1 is required for embryonic lymphangiogenesis and venous sproutingNature Genetics, 41
R. Ferrell, Kara Levinson, Judith Esman, M. Kimak, E. Lawrence, M. Barmada, D. Finegold (1998)
Hereditary lymphedema: evidence for linkage and genetic heterogeneity.Human molecular genetics, 7 13
T. Walsh, Hashem Shahin, Tal Elkan-Miller, Ming Lee, A. Thornton, Wendy Roeb, Amal Rayyan, Suheir Loulus, K. Avraham, M. King, M. Kanaan (2010)
Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.American journal of human genetics, 87 1
F. Connell, G. Brice, S. Jeffery, Vaughan Keeley, Peter Mortimer, S. Mansour (2010)
A new classification system for primary lymphatic dysplasias based on phenotypeClinical Genetics, 77
R. Mellor, G. Brice, A. Stanton, J. French, Alberto Smith, S. Jeffery, J. Levick, Kevin Burnand, Peter Mortimer (2007)
Mutations in FOXC2 Are Strongly Associated With Primary Valve Failure in Veins of the Lower LimbCirculation, 115
Lazareth (2002)
Classification of lymphedema.Rev Med Intern, 23
Kaya Bilgüvar, A. Öztürk, A. Louvi, Kenneth Kwan, Murim Choi, B. Tatlı, D. Yalnızoǧlu, B. Tüysüz, A. Çağlayan, S. Gökben, H. Kaymakçalan, T. Barak, Mehmet Bakırcıoğlu, Katsuhito Yasuno, W. Ho, Stephan Sanders, Ying Zhu, S. Yılmaz, A. Dinçer, Michele Johnson, R. Bronen, N. Kocer, H. Per, Shrikant Mane, M. Pamir, C. Yalçınkaya, S. Kumandas, M. Topçu, Meral Özmen, N. Šestan, R. Lifton, M. State, Murat Günel (2010)
Whole exome sequencing identifies recessive WDR62 mutations in severe brain malformationsNature, 467
G. Brice, S. Mansour, R. Bell, J. Collin, A. Child, A. Brady, M. Sarfarazi, K. Burnand, S. Jeffery, P. Mortimer, V. Murday (2002)
Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24Journal of Medical Genetics, 39
D. Finegold, M. Kimak, E. Lawrence, Kara Levinson, E. Cherniske, B. Pober, Jean Dunlap, R. Ferrell (2001)
Truncating mutations in FOXC2 cause multiple lymphedema syndromes.Human molecular genetics, 10 11
L. Vissers, J. Ligt, C. Gilissen, I. Janssen, M. Steehouwer, P. Vries, Bart Lier, P. Arts, Nienke Wieskamp, M. Rosario, B. Bon, A. Hoischen, B. Vries, H. Brunner, J. Veltman (2010)
A de novo paradigm for mental retardationNature Genetics, 42
F. Connell, K. Kalidas, P. Ostergaard, G. Brice, T. Homfray, Lesley Roberts, D. Bunyan, S. Mitton, S. Mansour, P. Mortimer, S. Jeffery, Lymphoedema Consortium (2010)
Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasiaHuman Genetics, 127
R. Erickson, S. Dagenais, Mark Caulder, C. Downs, G. Herman, Marilyn Jones, W. Kerstjens-Frederikse, A. Lidral, M. McDonald, C. Nelson, M. Witte, T. Glover (2001)
Clinical heterogeneity in lymphoedema-distichiasis withFOXC2 truncating mutationsJournal of Medical Genetics, 38
Sarah Ng, D. Nickerson, M. Bamshad, J. Shendure (2010)
Massively parallel sequencing and rare disease.Human molecular genetics, 19 R2
R. Ferrell, C. Baty, M. Kimak, J. Karlsson, E. Lawrence, Marlise Franke-Snyder, S. Meriney, E. Feingold, D. Finegold (2010)
GJC2 missense mutations cause human lymphedema.American journal of human genetics, 86 6
G. Abecasis, D. Altshuler, A. Auton, L. Brooks, R. Durbin, R. Gibbs, M. Hurles, G. McVean (2010)
A map of human genome variation from population-scale sequencingNature, 467
P. Krawitz, M. Schweiger, C. Rödelsperger, C. Marcelis, U. Kölsch, C. Meisel, Friederike Stephani, T. Kinoshita, Y. Murakami, Sebastian Bauer, Melanie Isau, A. Fischer, A. Dahl, M. Kerick, J. Hecht, Sebastian Köhler, M. Jäger, Johannes Grünhagen, Birgit Condor, S. Doelken, H. Brunner, P. Meinecke, E. Passarge, M. Thompson, D. Cole, D. Horn, T. Roscioli, S. Mundlos, P. Robinson (2010)
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndromeNature Genetics, 42
F. Connell, P. Ostergaard, C. Carver, G. Brice, N. Williams, S. Mansour, P. Mortimer, S. Jeffery, Lymphoedema Consortium (2009)
Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemasHuman Genetics, 124
Ostergaard P, Simpson MA, Jeffery S. Massively parallel sequencing and the identification of genes for primary lymphoedema: a perfect fit. Primary lymphoedema is a clinically and genetically heterogeneous group of disorders characterized by disruption of the lymphatic system. To date, the majority of the causative genes in primary lymphoedema have been identified through linkage analysis in large families with multiple affected subjects. Studies aimed at isolating additional genes responsible for primary lymphoedema have been hampered by cohorts comprised primarily of sporadic cases and small affected kindreds. In the absence of genetic heterogeneity, recent development of massively parallel DNA sequencing technology, specifically exome sequencing, has provided novel paradigms for disease gene identification in such cohorts. In this review, we summarize the novel approaches to disease gene discovery with massively parallel sequencing also known as Next Generation Sequencing (NGS), and show how the selection of unrelated affected cases from clinically homogenous phenotypic subclassifications is proving to be a successful approach for disease gene discovery in primary lymphoedema.
Clinical Genetics – Wiley
Published: Aug 1, 2011
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