Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly

American Journal of Human Genetics

Volumn 91, Issue 6, 2012, Pages 1135-1143

  Vuillaumier Barrot, Sandrine ^a,b   Bouchet Séraphin, Céline ^a   Chelbi, Malika ^a   Devisme, Louise ^c   Quentin, Samuel ^d   Gazal, Steven ^a   Laquerrière, Annie ^e   Fallet Bianco, Catherine ^f   Loget, Philippe ^g   Odent, Sylvie ^h   Carles, Dominique ⁱ   Bazin, Anne ^j   Aziza, Jacqueline ^k   Clemenson, Alix ^l   Guimiot, Fabien ^m   Bonnière, Maryse ⁿ   Monnot, Sophie ⁿ   Bole Feysot, Christine ⁿ   Bernard, Jean Pierre ⁿ   Loeuillet, Laurence ^o   Gonzales, Marie ^p,q   Socha, Koryna ^r   Grandchamp, Bernard ^a   Attié Bitach, Tania ^n,s   Encha Razavi, Férechté ^n,s   Seta, Nathalie ^a,s   more..

^a BICHAT HOSPITAL   (France)

^b CENTRE DE RECHERCHE BIOMÉDICALE BICHAT BEAUJON CRB3   (France)

^c UNIV LILLE   (France)

^d SAINT LOUIS HOSPITAL   (France)

^e HÔPITAL CHARLES NICOLLE   (France)

^f Centre Hospitalier Général   (France)

^g PONTCHAILLOU UNIVERSITY HOSPITAL   (France)

^h SERVICE DE RHUMATOLOGIE   (France)

ⁱ HÔPITAL PELLEGRIN   (France)

^j CENTRE HOSPITALIER RENÉ DUBOS   (France)

^k CHU PURPAN   (France)

^l HÔPITAL NORD   (France)

^m HÔPITAL ROBERT DEBRÉ   (France)

ⁿ HÔPITAL NECKER ENFANTS MALADES   (France)

^o CENTRE HOSPITALIER INTERCOMMUNAL   (France)

^p ARMAND TROUSSEAU HOSPITAL   (France)

^q SORBONNE UNIVERSITÉ   (France)

^r CENTRE HOSPITALIER DE TROYES   (France)

^s UNIVERSITÉ PARIS DESCARTES   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; COBBLESTONE LISSENCEPHALY; DISEASE SEVERITY; FETUS; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC LINKAGE; HUMAN; ISPD GENE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TMEM 5 GENE;

ALLELES; COBBLESTONE LISSENCEPHALY; CONSANGUINITY; EXONS; FAMILY; FETUS; GENE ORDER; GENOTYPE; HUMANS; INTRONS; MEMBRANE PROTEINS; MUTATION; NUCLEOTIDYLTRANSFERASES;

EID: 84870935092     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.10.009     Document Type: Article

References (51)

1. M.S. van der Knaap, L.M. Smit, P.G. Barth, C.E. Catsman-Berrevoets, O.F. Brouwer, J.H. Begeer, I.F. de Coo, and J. Valk Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities Ann. Neurol. 42 1997 50 59 (Pubitemid 27304780)
2. I. Nakano, M. Funahashi, K. Takada, and T. Toda Are breaches in the glia limitans the primary cause of the micropolygyria in Fukuyama-type congenital muscular dystrophy (FCMD)? Pathological study of the cerebral cortex of an FCMD fetus Acta Neuropathol. 91 1996 313 321 (Pubitemid 26042225)
3. A.J. Barkovich, R.I. Kuzniecky, G.D. Jackson, R. Guerrini, and W.B. Dobyns Classification system for malformations of cortical development: Update 2001 Neurology 57 2001 2168 2178 (Pubitemid 34016447)
4. A.J. Barkovich, R. Guerrini, R.I. Kuzniecky, G.D. Jackson, and W.B. Dobyns A developmental and genetic classification for malformations of cortical development: Update 2012 Brain 135 2012 1348 1369
5. 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 (Pubitemid 19079374)
6. P. Santavuori, H. Somer, K. Sainio, J. Rapola, S. Kruus, T. Nikitin, L. Ketonen, and J. Leisti Muscle-eye-brain disease (MEB) Brain Dev. 11 1989 147 153 (Pubitemid 19149730)
7. Y. Fukuyama, M. Osawa, and H. Suzuki Congenital progressive muscular dystrophy of the Fukuyama type - Clinical, genetic and pathological considerations Brain Dev. 3 1981 1 29 (Pubitemid 11125887)
8. 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 (Pubitemid 28373837)
9. 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 (Pubitemid 35305223)
10. 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 (Pubitemid 41811312)
11. 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 (Pubitemid 47511718)
12. K. Taniguchi, K. Kobayashi, K. Saito, H. Yamanouchi, A. Ohnuma, Y.K. Hayashi, H. Manya, D.K. Jin, M. Lee, and E. Parano Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease Hum. Mol. Genet. 12 2003 527 534 (Pubitemid 36305591)
13. E. Clement, E. Mercuri, C. Godfrey, J. Smith, S. Robb, M. Kinali, V. Straub, K. Bushby, A. Manzur, and B. Talim Brain involvement in muscular dystrophies with defective dystroglycan glycosylation Ann. Neurol. 64 2008 573 582
14. B. Balci, G. Uyanik, P. Dincer, C. Gross, T. Willer, B. Talim, G. Haliloglu, G. Kale, U. Hehr, J. Winkler, and H. Topaloǧlu An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene Neuromuscul. Disord. 15 2005 271 275 (Pubitemid 40431931)
15. R. Biancheri, A. Falace, A. Tessa, M. Pedemonte, S. Scapolan, D. Cassandrini, C. Aiello, A. Rossi, P. Broda, and F. Zara POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes Biochem. Biophys. Res. Commun. 363 2007 1033 1037 (Pubitemid 47552963)
16. E.M. Clement, C. Godfrey, J. Tan, M. Brockington, S. Torelli, L. Feng, S.C. Brown, C. Jimenez-Mallebrera, C.A. Sewry, and C. Longman Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant Arch. Neurol. 65 2008 137 141
17. 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 (Pubitemid 34030916)
18. S. Vuillaumier-Barrot, S. Quijano-Roy, C. Bouchet-Seraphin, S. Maugenre, S. Peudenier, P. Van den Bergh, P. Marcorelles, D. Avila-Smirnow, M. Chelbi, and N.B. Romero Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype Neuromuscul. Disord. 19 2009 182 188
19. 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 (Pubitemid 47519395)
20. L. Devisme, C. Bouchet, M. Gonzalès, E. Alanio, A. Bazin, B. Bessières, N. Bigi, P. Blanchet, D. Bonneau, and M. Bonnières Cobblestone lissencephaly: Neuropathological subtypes and correlations with genes of dystroglycanopathies Brain 135 2012 469 482
21. S. Purcell, B. Neale, K. Todd-Brown, L. Thomas, M.A. Ferreira, D. Bender, J. Maller, P. Sklar, P.I. de Bakker, M.J. Daly, and P.C. Sham PLINK: a tool set for whole-genome association and population-based linkage analyses Am. J. Hum. Genet. 81 2007 559 575 (Pubitemid 47330214)
22. G.R. Abecasis, S.S. Cherny, W.O. Cookson, and L.R. Cardon Merlin - Rapid analysis of dense genetic maps using sparse gene flow trees Nat. Genet. 30 2002 97 101
23. M. Yokoyama-Kobayashi, T. Yamaguchi, S. Sekine, and S. Kato Selection of cDNAs encoding putative type II membrane proteins on the cell surface from a human full-length cDNA bank Gene 228 1999 161 167 (Pubitemid 29136697)
24. T. Lind, F. Tufaro, C. McCormick, U. Lindahl, and K. Lidholt The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate J. Biol. Chem. 273 1998 26265 26268 (Pubitemid 28471622)
25. J. Ahn, H.J. Lüdecke, S. Lindow, W.A. Horton, B. Lee, M.J. Wagner, B. Horsthemke, and D.E. Wells Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1) Nat. Genet. 11 1995 137 143
26. C.A. Wiggins, and S. Munro Activity of the yeast MNN1 alpha-1,3-mannosyltransferase requires a motif conserved in many other families of glycosyltransferases Proc. Natl. Acad. Sci. USA 95 1998 7945 7950 (Pubitemid 28326046)
27. L.C. Pedersen, K. Tsuchida, H. Kitagawa, K. Sugahara, T.A. Darden, and M. Negishi Heparan/chondroitin sulfate biosynthesis. Structure and mechanism of human glucuronyltransferase I J. Biol. Chem. 275 2000 34580 34585
28. P.K. Cheung, C. McCormick, B.E. Crawford, J.D. Esko, F. Tufaro, and G. Duncan Etiological point mutations in the hereditary multiple exostoses gene EXT1: A functional analysis of heparan sulfate polymerase activity Am. J. Hum. Genet. 69 2001 55 66 (Pubitemid 32614018)
29. B.M. Zak, B.E. Crawford, and J.D. Esko Hereditary multiple exostoses and heparan sulfate polymerization Biochim. Biophys. Acta 1573 2002 346 355 (Pubitemid 35335443)
30. 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
31. 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
32. S.B. Richard, M.E. Bowman, W. Kwiatkowski, I. Kang, C. Chow, A.M. Lillo, D.E. Cane, and J.P. Noel Structure of 4-diphosphocytidyl-2-C- methylerythritol synthetase involved in mevalonate- independent isoprenoid biosynthesis Nat. Struct. Biol. 8 2001 641 648 (Pubitemid 32613015)
33. W.N. Hunter The non-mevalonate pathway of isoprenoid precursor biosynthesis J. Biol. Chem. 282 2007 21573 21577 (Pubitemid 47195723)
34. H.M. Miziorko Enzymes of the mevalonate pathway of isoprenoid biosynthesis Arch. Biochem. Biophys. 505 2011 131 143
35. E. Schollen, S. Kjaergaard, E. Legius, M. Schwartz, and G. Matthijs Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia) Eur. J. Hum. Genet. 8 2000 367 371 (Pubitemid 30339341)
36. C.T. Esapa, M.A. Benson, J.E. Schröder, E. Martin-Rendon, M. Brockington, S.C. Brown, F. Muntoni, S. Kröger, and D.J. Blake Functional requirements for fukutin-related protein in the Golgi apparatus Hum. Mol. Genet. 11 2002 3319 3331 (Pubitemid 36054660)
37. M. Alhamidi, E. Kjeldsen Buvang, T. Fagerheim, V. Brox, S. Lindal, M. Van Ghelue, and O. Nilssen Fukutin-related protein resides in the Golgi cisternae of skeletal muscle fibres and forms disulfide-linked homodimers via an N-terminal interaction PLoS ONE 6 2011 e22968
38. T. Yamamoto, M. Kawaguchi, N. Sakayori, F. Muramatsu, S. Morikawa, Y. Kato, N. Shibata, and M. Kobayashi Intracellular binding of fukutin and alpha-dystroglycan: relation to glycosylation of alpha-dystroglycan Neurosci. Res. 56 2006 391 399 (Pubitemid 44750266)
39. R. Barresi, D.E. Michele, M. Kanagawa, H.A. Harper, S.A. Dovico, J.S. Satz, S.A. Moore, W. Zhang, H. Schachter, and J.P. Dumanski LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies Nat. Med. 10 2004 696 703 (Pubitemid 38937634)
40. 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
41. Y. Hara, M. Kanagawa, S. Kunz, T. Yoshida-Moriguchi, J.S. Satz, Y.M. Kobayashi, Z. Zhu, S.J. Burden, M.B. Oldstone, and K.P. Campbell Like-acetylglucosaminyltransferase (LARGE)-dependent modification of dystroglycan at Thr-317/319 is required for laminin binding and arenavirus infection Proc. Natl. Acad. Sci. USA 108 2011 17426 17431
42. Y. Hu, Z.F. Li, X. Wu, and Q. Lu Large induces functional glycans in an O-mannosylation dependent manner and targets GlcNAc terminals on alpha-dystroglycan PLoS ONE 6 2011 e16866
43. J. Vajsar, B. Baskin, K. Swoboda, D.W. Biggar, H. Schachter, and P.N. Ray Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate Neuromuscul. Disord. 18 2008 675 677
44. 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
45. C. Godfrey, A.R. Foley, E. Clement, and F. Muntoni Dystroglycanopathies: coming into focus Curr. Opin. Genet. Dev. 21 2011 278 285
46. S. Messina, G. Tortorella, D. Concolino, M. Spanò, A. D'Amico, C. Bruno, F.M. Santorelli, E. Mercuri, and E. Bertini Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy Neurology 73 2009 1599 1601
47. 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
48. A.R. Frost, S.V. Böhm, R.N. Sewduth, D. Josifova, C.M. Ogilvie, L. Izatt, and R.G. Roberts Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalities Eur. J. Hum. Genet. 18 2010 852 855
49. Y. Hara, B. Balci-Hayta, T. Yoshida-Moriguchi, M. Kanagawa, D. Beltrán-Valero de Bernabé, H. Gündeşli, T. Willer, J.S. Satz, R.W. Crawford, and S.J. Burden A dystroglycan mutation associated with limb-girdle muscular dystrophy N. Engl. J. Med. 364 2011 939 946
50. S. Vuillaumier-Barrot, C. Bouchet-Seraphin, M. Chelbi, A. Eude-Caye, E. Charluteau, C. Besson, S. Quentin, L. Devisme, C. Le Bizec, and P. Landrieu Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies Neuromuscul. Disord. 21 2011 782 790
51. M. Raducu, J. Baets, O. Fano, R. Van Coster, and J. Cruces Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O Eur. J. Hum. Genet. 20 2012 945 952