A novel mutation in CELSR1 is associated with hereditary lymphedema

Vascular Cell

Volumn 8, Issue 1, 2016, Pages

  Gonzalez Garay, M L ^a   Aldrich, M B ^a   Rasmussen, J C ^a   Guilliod, R ^a   Lapinski, P E ^b   King, P D ^b   Sevick Muraca, E M ^a  

^a UNIVERSITY OF TEXAS   (United States)

^b UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

Near infrared fluorescence imaging CELSR1; Planar polarity; Primary lymphedema; Whole exome sequencing

Indexed keywords

ADULT; AGED; ARTICLE; CASE REPORT; CELL POLARITY; CELSR1 GENE; DISEASE ASSOCIATION; EXOME; FAMILY ASSESSMENT; FEMALE; FLUORESCENCE IMAGING; GENE; GENE MUTATION; GENETIC ASSOCIATION; HEREDITARY LYMPHEDEMA; HUMAN; INTRACELLULAR SIGNALING; LEG DISEASE; MIDDLE AGED; MUTATIONAL ANALYSIS; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; VERY ELDERLY;

EID: 84957108064     PISSN: None     EISSN: 2045824X     Source Type: Journal    
DOI: 10.1186/s13221-016-0035-5     Document Type: Article

References (32)

1. Mortimer PS, Rockson SG. New developments in clinical aspects of lymphatic disease. J Clin Invest. 2014;124(3):915-21.
2. Ferrell RE, Levinson KL, Esman JH, Kimak MA, Lawrence EC, Barmada MM, et al. Hereditary lymphedema: evidence for linkage and genetic heterogeneity. Hum Mol Genet. 1998;7(13):2073-8.
3. Brouillard P, Boon L, Vikkula M. Genetics of lymphatic anomalies. J Clin Invest. 2014;124(3):898-904.
4. Mendola A, Schlogel MJ, Ghalamkarpour A, Irrthum A, Nguyen HL, Fastre E, et al. Mutations in the VEGFR3 signaling pathway explain 36 % of familial lymphedema. Mol Syndromol. 2013;4(6):257-66.
5. Sevick-Muraca EM. Translation of near-infrared fluorescence imaging technologies: emerging clinical applications. Annu Rev Med. 2012;63:217-31.
6. Rasmussen JC, Tan IC, Marshall MV, Adams KE, Kwon S, Fife CE, et al. Human Lymphatic Architecture and Dynamic Transport Imaged Using Near-infrared Fluorescence. Transl Oncol. 2010;3(6):362-72.
7. Rasmussen JC, Tan IC, Marshall MV, Fife CE, Sevick-Muraca EM. Lymphatic imaging in humans with near-infrared fluorescence. Curr Opin Biotechnol. 2009;20(1):74-82.
8. McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20(9):1297-303.
9. Cingolani P, Platts A, le Wang L, Coon M, Nguyen T, Wang L, et al. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3. Fly (Austin). 2012;6(2):80-92.
10. Yang H, Wang K. Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR. Nat Protoc. 2015;10(10):1556-66.
11. Adzhubei I, Jordan DM, Sunyaev SR. Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet. 2013;Chapter 7:Unit7 20.
12. Ng PC, Henikoff S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res. 2003;31(13):3812-4.
13. Schwarz JM, Rodelsperger C, Schuelke M, Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods. 2010;7(8):575-6.
14. Liu X, Wu C, Li C, Boerwinkle E. dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Non-synonymous and Splice Site SNVs. Hum Mutat. 2015. doi: 10.1002/humu.22932
15. Tennessen JA, Bigham AW, O'Connor TD, Fu W, Kenny EE, Gravel S, et al. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science. 2012;337(6090):64-9.
16. Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, et al. A map of human genome variation from population-scale sequencing. Nature. 2010;467(7319):1061-73.
17. Robinson JT, Thorvaldsdottir H, Winckler W, Guttman M, Lander ES, Getz G, et al. Integrative genomics viewer. Nat Biotechnol. 2011;29(1):24-6.
18. The Cancer Genome Atlas [ http://cancergenome.nih.gov/ ].
19. The Scripps Wellderly Study [ ftp://stsi-ftp.sdsc.edu/pub/wellderly/ ].
20. Exome Aggregation Consortium (ExAC) [ http://exac.broadinstitute.org ].
21. Landrum MJ, Lee JM, Benson M, Brown G, Chao C, Chitipiralla S, et al. ClinVar: public archive of interpretations of clinically relevant variants. Nucleic Acids Res. 2016;44(D1):D862-868.
22. Amberger JS, Bocchini CA, Schiettecatte F, Scott AF, Hamosh A. OMIM.org: Online Mendelian Inheritance in Man (OMIM(R)), an online catalog of human genes and genetic disorders. Nucleic Acids Res. 2015;43(Database issue):D789-798.
23. Forbes SA, Beare D, Gunasekaran P, Leung K, Bindal N, Boutselakis H, et al. COSMIC: exploring the world's knowledge of somatic mutations in human cancer. Nucleic Acids Res. 2015;43(Database issue):D805-811.
24. Hakenberg J, Cheng WY, Thomas P, Wang YC, Uzilov AV, Chen R. Integrating 400 million variants from 80,000 human samples with extensive annotations: towards a knowledge base to analyze disease cohorts. BMC Bioinformatics. 2016;17(1):24.
25. Rosenbloom KR, Armstrong J, Barber GP, Casper J, Clawson H, Diekhans M, et al. The UCSC Genome Browser database: 2015 update. Nucleic Acids Res. 2015;43(Database issue):D670-681.
26. Halbleib JM, Nelson WJ. Cadherins in development: cell adhesion, sorting, and tissue morphogenesis. Genes Dev. 2006;20(23):3199-214.
27. Kimura H, Usui T, Tsubouchi A, Uemura T. Potential dual molecular interaction of the Drosophila 7-pass transmembrane cadherin Flamingo in dendritic morphogenesis. J Cell Sci. 2006;119(Pt 6):1118-29.
28. Formstone CJ, Little PF. The flamingo-related mouse Celsr family (Celsr1-3) genes exhibit distinct patterns of expression during embryonic development. Mech Dev. 2001;109(1):91-4.
29. Allache R, De Marco P, Merello E, Capra V, Kibar Z. Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis. Birth Defects Res A Clin Mol Teratol. 2012;94(3):176-81.
30. Lei Y, Zhu H, Yang W, Ross ME, Shaw GM, Finnell RH. Identification of novel CELSR1 mutations in spina bifida. PLoS One. 2014;9(3):, e92207.
31. Tatin F, Taddei A, Weston A, Fuchs E, Devenport D, Tissir F, et al. Planar cell polarity protein Celsr1 regulates endothelial adherens junctions and directed cell rearrangements during valve morphogenesis. Dev Cell. 2013;26(1):31-44.
32. Agollah GD, Gonzalez-Garay ML, Rasmussen JC, Tan IC, Aldrich MB, Darne C, et al. Evidence for SH2 domain-containing 5'-inositol phosphatase-2 (SHIP2) contributing to a lymphatic dysfunction. PLoS One. 2014;9(11):, e112548.