Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan

American Journal of Human Genetics

Volumn 92, Issue 3, 2013, Pages 354-365

  Stevens, Elizabeth ^a   Carss, Keren J ^b   Cirak, Sebahattin ^a   Foley, A Reghan ^a   Torelli, Silvia ^a   Willer, Tobias ^c   Tambunan, Dimira E ^d   Yau, Shu ^e   Brodd, Lina ^e   Sewry, Caroline A ^a,f   Feng, Lucy ^a   Haliloglu, Goknur ^g   Orhan, Diclehan ^g   Dobyns, William B ^h   Enns, Gregory M ⁱ   Manning, Melanie ⁱ   Krause, Amanda ^j   Salih, Mustafa A ^k   Walsh, Christopher A ^d   Hurles, Matthew ^b   Campbell, Kevin P ^c   Manzini, M Chiara ^d   Stemple, Derek ^b   Lin, Yung Yao ^b,l   Muntoni, Francesco ^a   more..

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^c UNIVERSITY OF IOWA   (United States)

^d BOSTON CHILDREN S HOSPITAL   (United States)

^e DNA Laboratory   (United Kingdom)

^f Centre for Inherited Neuromuscular Disorders   (United Kingdom)

^g HACETTEPE UNIVERSITY   (Turkey)

^h SEATTLE CHILDREN S HOSPITAL   (United States)

ⁱ STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j UNIVERSITY OF THE WITWATERSRAND   (South Africa)

^k KING SAUD UNIVERSITY   (Saudi Arabia)

^l QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA DYSTROGLYCAN; BETA 1,3 N ACETYLGALACTOSAMINYLTRANSFERASE 2; LAMININ; N ACETYLGALACTOSAMINE; N ACETYLGLUCOSAMINE; TRANSFERASE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BRAIN REGION; CLINICAL ARTICLE; CONTROLLED STUDY; DYSTROGLYCANOPATHY; ENDOPLASMIC RETICULUM; EXTRACELLULAR MATRIX; FEMALE; FIBROBLAST; FLOW CYTOMETRY; GENE MUTATION; GENE SILENCING; GLYCOSYLATION; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOGLYCOSYLATION; IMMUNOBLOTTING; IMMUNOCYTOCHEMISTRY; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCLE CELL; MUSCULAR DYSTROPHY; MUTAGENESIS; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN LOCALIZATION; PROTEIN TRANSPORT; ZEBRA FISH;

ANIMALS; BRAIN; CELL LINE; DYSTROGLYCANS; ENDOPLASMIC RETICULUM; FEMALE; FIBROBLASTS; GENETIC PREDISPOSITION TO DISEASE; GLYCOSYLATION; HUMANS; INFANT; MALE; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUTATION; N-ACETYLGALACTOSAMINYLTRANSFERASES; ZEBRAFISH;

DANIO RERIO;

EID: 84876414078     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.01.016     Document Type: Article

References (47)

1. J.M. Ervasti, and K.P. Campbell A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin J. Cell Biol. 122 1993 809 823
2. O. Ibraghimov-Beskrovnaya, J.M. Ervasti, C.J. Leveille, C.A. Slaughter, S.W. Sernett, and K.P. Campbell Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix Nature 355 1992 696 702
3. J.M. Ervasti, and K.P. Campbell Membrane organization of the dystrophin-glycoprotein complex Cell 66 1991 1121 1131
4. J.F. Talts, Z. Andac, W. Göhring, A. Brancaccio, and R. Timpl Binding of the G domains of laminin alpha1 and alpha2 chains and perlecan to heparin, sulfatides, alpha-dystroglycan and several extracellular matrix proteins EMBO J. 18 1999 863 870
5. M. Durbeej, E. Larsson, O. Ibraghimov-Beskrovnaya, S.L. Roberds, K.P. Campbell, and P. Ekblom Non-muscle alpha-dystroglycan is involved in epithelial development J. Cell Biol. 130 1995 79 91
6. M. Durbeej, M.D. Henry, M. Ferletta, K.P. Campbell, and P. Ekblom Distribution of dystroglycan in normal adult mouse tissues J. Histochem. Cytochem. 46 1998 449 457
7. M. Durbeej, M.D. Henry, and K.P. Campbell Dystroglycan in development and disease Curr. Opin. Cell Biol. 10 1998 594 601
8. D. Beltrán-Valero de Bernabé, S. Currier, A. Steinbrecher, J. Celli, E. van Beusekom, B. van der Zwaag, H. Kayserili, L. Merlini, D. Chitayat, and W.B. Dobyns Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome Am. J. Hum. Genet. 71 2002 1033 1043
9. J. van Reeuwijk, M. Janssen, C. van den Elzen, D. Beltran-Valero de Bernabé, P. Sabatelli, L. Merlini, M. Boon, H. Scheffer, M. Brockington, and F. Muntoni POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome J. Med. Genet. 42 2005 907 912
10. A. Yoshida, K. Kobayashi, H. Manya, K. Taniguchi, H. Kano, M. Mizuno, T. Inazu, H. Mitsuhashi, S. Takahashi, and M. Takeuchi Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1 Dev. Cell 1 2001 717 724
11. K. Kobayashi, Y. Nakahori, M. Miyake, K. Matsumura, E. Kondo-Iida, Y. Nomura, M. Segawa, M. Yoshioka, K. Saito, and M. Osawa An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy Nature 394 1998 388 392
12. M. Brockington, D.J. Blake, P. Prandini, S.C. Brown, S. Torelli, M.A. Benson, C.P. Ponting, B. Estournet, N.B. Romero, and E. Mercuri Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan Am. J. Hum. Genet. 69 2001 1198 1209
13. C. Longman, M. Brockington, S. Torelli, C. Jimenez-Mallebrera, C. Kennedy, N. Khalil, L. Feng, R.K. Saran, T. Voit, and L. Merlini Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan Hum. Mol. Genet. 12 2003 2853 2861
14. R. Barone, C. Aiello, V. Race, E. Morava, F. Foulquier, M. Riemersma, C. Passarelli, D. Concolino, M. Carella, and F. Santorelli DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy Ann. Neurol. 72 2012 550 558
15. D.J. Lefeber, J. Schönberger, E. Morava, M. Guillard, K.M. Huyben, K. Verrijp, O. Grafakou, A. Evangeliou, F.W. Preijers, and P. Manta Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies Am. J. Hum. Genet. 85 2009 76 86
16. D.J. Lefeber, A.P. de Brouwer, E. Morava, M. Riemersma, J.H. Schuurs-Hoeijmakers, B. Absmanner, K. Verrijp, W.M. van den Akker, K. Huijben, and G. Steenbergen Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation PLoS Genet. 7 2011 e1002427
17. T. Willer, H. Lee, M. Lommel, T. Yoshida-Moriguchi, D.B. de Bernabe, D. Venzke, S. Cirak, H. Schachter, J. Vajsar, and T. Voit ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome Nat. Genet. 44 2012 575 580
18. S. Cirak, A.R. Foley, R. Herrmann, T. Willer, S. Yau, E. Stevens, S. Torelli, L. Brodd, A. Kamynina, P. Vondracek UK10K Consortium ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies Brain 136 2013 269 281
19. T. Roscioli, E.J. Kamsteeg, K. Buysse, I. Maystadt, J. van Reeuwijk, C. van den Elzen, E. van Beusekom, M. Riemersma, R. Pfundt, and L.E. Vissers Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan Nat. Genet. 44 2012 581 585
20. M.C. Manzini, D.E. Tambunan, R.S. Hill, T.W. Yu, T.M. Maynard, E.L. Heinzen, K.V. Shianna, C.R. Stevens, J.N. Partlow, and B.J. Barry Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome Am. J. Hum. Genet. 91 2012 541 547
21. S. Vuillaumier-Barrot, C. Bouchet-Séraphin, M. Chelbi, L. Devisme, S. Quentin, S. Gazal, A. Laquerrière, C. Fallet-Bianco, P. Loget, and S. Odent Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly Am. J. Hum. Genet. 91 2012 1135 1143
22. C. Jimenez-Mallebrera, S. Torelli, L. Feng, J. Kim, C. Godfrey, E. Clement, R. Mein, S. Abbs, S.C. Brown, and K.P. Campbell A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity Brain Pathol. 19 2009 596 611
23. J. van Reeuwijk, H.G. Brunner, and H. van Bokhoven Glyc-O-genetics of Walker-Warburg syndrome Clin. Genet. 67 2005 281 289
24. M. Brockington, Y. Yuva, P. Prandini, S.C. Brown, S. Torelli, M.A. Benson, R. Herrmann, L.V. Anderson, R. Bashir, and J.M. Burgunder Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C Hum. Mol. Genet. 10 2001 2851 2859
25. C. Godfrey, E. Clement, R. Mein, M. Brockington, J. Smith, B. Talim, V. Straub, S. Robb, R. Quinlivan, and L. Feng Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan Brain 130 2007 2725 2735
26. C. Bouchet, M. Gonzales, S. Vuillaumier-Barrot, L. Devisme, C. Lebizec, E. Alanio, A. Bazin, B. Bessières-Grattagliano, N. Bigi, and P. Blanchet Molecular heterogeneity in fetal forms of type II lissencephaly Hum. Mutat. 28 2007 1020 1027
27. K. Wang, M. Li, and H. Hakonarson ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data Nucleic Acids Res. 38 2010 e164
28. V. Dubowitz, C.A. Sewry, and A. Oldfors Muscle Biopsy: A Practical Approach Fourth Edition 2012 SAUNDERS Elsevier Oxford, UK
29. J.M. Ervasti, K. Ohlendieck, S.D. Kahl, M.G. Gaver, and K.P. Campbell Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle Nature 345 1990 315 319
30. D.E. Michele, R. Barresi, M. Kanagawa, F. Saito, R.D. Cohn, J.S. Satz, J. Dollar, I. Nishino, R.I. Kelley, and H. Somer Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies Nature 418 2002 417 422
31. J.M. Rojek, K.P. Campbell, M.B. Oldstone, and S. Kunz Old World arenavirus infection interferes with the expression of functional alpha-dystroglycan in the host cell Mol. Biol. Cell 18 2007 4493 4507
32. M. Brockington, S. Torelli, P.S. Sharp, K. Liu, S. Cirak, S.C. Brown, D.J. Wells, and F. Muntoni Transgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscle PLoS ONE 5 2010 e14434
33. S.T. Cooper, H.P. Lo, and K.N. North Single section Western blot: improving the molecular diagnosis of the muscular dystrophies Neurology 61 2003 93 97
34. J. Malicki, H. Jo, X. Wei, M. Hsiung, and Z. Pujic Analysis of gene function in the zebrafish retina Methods 28 2002 427 438
35. M.J. Parsons, I. Campos, E.M. Hirst, and D.L. Stemple Removal of dystroglycan causes severe muscular dystrophy in zebrafish embryos Development 129 2002 3505 3512
36. M.E. Robu, J.D. Larson, A. Nasevicius, S. Beiraghi, C. Brenner, S.A. Farber, and S.C. Ekker p53 activation by knockdown technologies PLoS Genet. 3 2007 e78
37. T. Hiruma, A. Togayachi, K. Okamura, T. Sato, N. Kikuchi, Y.D. Kwon, A. Nakamura, K. Fujimura, M. Gotoh, and K. Tachibana A novel human β1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure, GalNAcbeta1-3GlcNAc J. Biol. Chem. 279 2004 14087 14095
38. T. Yoshida-Moriguchi, L. Yu, S.H. Stalnaker, S. Davis, S. Kunz, M. Madson, M.B. Oldstone, H. Schachter, L. Wells, and K.P. Campbell O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding Science 327 2010 88 92
39. R. Harrison, P.G. Hitchen, M. Panico, H.R. Morris, D. Mekhaiel, R.J. Pleass, A. Dell, J.E. Hewitt, and S.M. Haslam Glycoproteomic characterization of recombinant mouse α-dystroglycan Glycobiology 22 2012 662 675
40. W.B. Dobyns, R.A. Pagon, D. Armstrong, C.J. Curry, F. Greenberg, A. Grix, L.B. Holmes, R. Laxova, V.V. Michels, and M. Robinow Diagnostic criteria for Walker-Warburg syndrome Am. J. Med. Genet. 32 1989 195 210
41. B. Cormand, H. Pihko, M. Bayés, L. Valanne, P. Santavuori, B. Talim, R. Gershoni-Baruch, A. Ahmad, H. van Bokhoven, and H.G. Brunner Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease Neurology 56 2001 1059 1069
42. S.S. Gerety, and D.G. Wilkinson Morpholino artifacts provide pitfalls and reveal a novel role for pro-apoptotic genes in hindbrain boundary development Dev. Biol. 350 2011 279 289
43. Y.Y. Lin, R.J. White, S. Torelli, S. Cirak, F. Muntoni, and D.L. Stemple Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies Hum. Mol. Genet. 20 2011 1763 1775
44. D.I. Bassett, R.J. Bryson-Richardson, D.F. Daggett, P. Gautier, D.G. Keenan, and P.D. Currie Dystrophin is required for the formation of stable muscle attachments in the zebrafish embryo Development 130 2003 5851 5860
45. C. Godfrey, A.R. Foley, E. Clement, and F. Muntoni Dystroglycanopathies: coming into focus Curr. Opin. Genet. Dev. 21 2011 278 285
46. C. Herzog, C. Has, C.W. Franzke, F.G. Echtermeyer, U. Schlötzer-Schrehardt, S. Kröger, E. Gustafsson, R. Fässler, and L. Bruckner-Tuderman Dystroglycan in skin and cutaneous cells: beta-subunit is shed from the cell surface J. Invest. Dermatol. 122 2004 1372 1380
47. D.J. Gill, J. Chia, J. Senewiratne, and F. Bard Regulation of O-glycosylation through Golgi-to-ER relocation of initiation enzymes J. Cell Biol. 189 2010 843 858