DAG1 NM_004393.6 |
WWS MEB CMD-1C CMD-1D |
c.15G>A (p.Val5=); c.41C>A(p.Ser14Ter); c.235C>T (p.Arg79Ter); c.285+1G>A c.330G>A (p.Trp110Ter); c.440del(p.Gln147fs); c.454_467del (p.Phe152fs) c.556G>T (p.Glu186Ter) c.721_722del (p.Phe241fs) c.743del (p.Ala248fs) c.839del (p.Pro280fs) |
[164164. Dong M, Noguchi S, Endo Y, et al. DAG1 mutations associated with asymptomatic hyperCKemia and hypoglycosylation of α-dystroglycan. Neurology. 2015;84(3):273-279. doi:10.1212/WNL.0000000000001162. https://doi.org/10.1212/WNL.000000000000...
] [165165. Gupta V, Kawahara G, Gundry SR, et al. The zebrafish dag1 mutant: A novel genetic model for dystroglycanopathies. Hum Mol Genet. 2011;20(9):1712-1725. doi:10.1093/hmg/ddr047. https://doi.org/10.1093/hmg/ddr047...
] [166166. Dai Y, Liang S, Dong X, et al. Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy-dystroglycanopathy. J Cell Mol Med. 2019;23(2):811-818. doi:10.1111/jcmm.13979. https://doi.org/10.1111/jcmm.13979...
] [167167. Leibovitz Z, Mandel H, Falik-Zaccai TC, et al. Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation. Eur J Paediatr Neurol. 2018;22(3):525-531. doi:10.1016/j.ejpn.2017.12.012. https://doi.org/10.1016/j.ejpn.2017.12.0...
] |
POMT2 NM_013382.7 |
WWS CMD-MR LGMD 2N |
c.49_50delinsA (p.Arg18fs) c.248+1G>C; c.248+2T>C; c.248+5G>C c.311A>T (p.Asp104Val) c.431T>G (p.Met144Arg) c.462G>A (p.Trp154Ter) c.648C>A (p.Cys216Ter) c.673del (p.Trp225fs) c.678del (p.Trp226fs) c.737G>A (p.Gly246Asp) c.791del (p.Leu264fs) c.879_880del (p.Thr295fs) c.881A>G (p.Tyr294Cys) c.924-2A>C; c.958C>T (p.Gln320Ter) c.1006+1G>A c.1034_1035del (p.Val345fs) c.1117G>T (p.Val373Phe) c.1123_1124dup (p.Tyr376fs) c.1237C>T (p.Arg413Ter) c.1253+1G>A c.1261del (p.Arg421fs) c.1261C>T (p.Arg421Trp) c.1293dup (p.Met432fs) c.1300del (p.Arg434fs) c.1417C>T (p.Arg473Ter) c.1445G>T (p.Gly482Val) c.1555G>T (p.Glu519Ter) c.1577-5_1577-1delinsTGA c.1912C>T (p.Arg638Ter) c.1941G>A (p.Trp647Ter) c.1997A>G (p.Tyr666Cys) c.2177G>A (p.Gly726Glu) |
[120120. Endo T, Manya H, Seta N, Guicheney P. POMGnT1, POMT1, and POMT2 mutations in congenital muscular Dystrophies. In: Fukuda M, ed. Methods in enzymology. 1st ed. v. 479. Elsevier Inc.; 2010:343-352. doi:10.1016/S0076-6879(10)79019-4. https://doi.org/10.1016/S0076-6879(10)79...
] [168168. Østergaard ST, Johnson K, Stojkovic T, et al. Limb girdle muscular dystrophy due to mutations in POMT2. J Neurol Neurosurg Psychiatry. 2018;89(5):506-512. doi:10.1136/jnnp-2017-317018. https://doi.org/10.1136/jnnp-2017-317018...
] [169169. Yanagisawa A, Bouchet C, Van Den Bergh PYK, et al. New POMT2 mutations causing congenital muscular dystrophy: Identification of a founder mutation. Neurology. 2007;69(12):1254-1260. doi:10.1212/01.wnl.0000268489.60809.c4. https://doi.org/10.1212/01.wnl.000026848...
] [170170. Brun BN, Willer T, Darbro BW, et al. Uniparental disomy unveils a novel recessive mutation in POMT2. Neuromuscul Disord. 2018;28(7):592-596. doi:10.1016/j.nmd.2018.04.003. https://doi.org/10.1016/j.nmd.2018.04.00...
] [171171. Chen XY, Song DY, Jiang L, et al. Phenotype and genotype study of chinese POMT2-Related α-dystroglycanopathy. Front Genet. 2021;12:692479. doi:10.3389/fgene.2021.692479. https://doi.org/10.3389/fgene.2021.69247...
] [172172. Messina S, Mora M, Pegoraro E, et al. POMT1 and POMT2 mutations in CMD patients: A multicentric Italian study. Neuromuscul Disord. 2008;18(7):565-571. doi:10.1016/j.nmd.2008.04.004. https://doi.org/10.1016/j.nmd.2008.04.00...
] [173173. Mercuri E, Messina S, Bruno C, et al. Congenital muscular dystrophies with defective glycosylation of dystroglycan: A population study. Neurology. 2009;72(21):1802-1809. doi:10.1212/01.wnl.0000346518.68110.60. https://doi.org/10.1212/01.wnl.000034651...
] [174174. Van Reeuwijk J, Janssen M, Van Den Elzen C, et al. POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J Med Genet. 2005;42(12):907-912. doi:10.1136/jmg.2005.031963. https://doi.org/10.1136/jmg.2005.031963...
] [175175. Godfrey C, Clement E, Mein R, et al. Refining genotype-phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain. 2007;130(10):2725-2735. doi:10.1093/brain/awm212. https://doi.org/10.1093/brain/awm212...
] |
POMT1 NM_001077365.2 |
WWS LGMD |
c.58dup (p.Val20fs) c.72del (p.Met25fs) c.97C>T (p.Arg33Ter) c.130G>A (p.Glu44Lys) c.193G>A (p.Gly65Arg) c.264G>A (p.Trp88Ter) c.270_280delAATTGGAGCAG (p.Gly92fs) c.280+1G>T c.414del (p.Leu138_Leu139insTer) c.418_420del (p.Met140del) c.430A>G (p.Asn144Asp) c.443C>A (p.Thr148Asn) c.579_580del (p.Val195fs) c.598G>C (p.Ala200Pro) c.606del (p.Ile203fs) c.699+62del; c.699+67G>A c.841C>T (p.Gln281Ter) c.859_871del (p.Gly287fs) c.978C>A (p.Tyr326Ter) c.990T>A (p.Tyr330Ter) c.1087C>T (p.Gln363Ter) c.1091del (p.Leu364fs) c.1093_1094insGGAGCACGGTGTGGAACGTGGG (p.Val365fs) c.1175C>T (p.Thr392Met) c.1175+3del c.1195_1196del (p.Leu399fs) c.1204dup (p.His402fs) c.1272+1G>A c.1361T>G (p.Leu454Ter) c.1364del (p.Lys455fs) c.1391G>C (p.Trp464Ser) c.1417G>C (p.Gly473Arg) c.1457G>A (p.Trp486Ter) c.1474C>T (p.Arg492Ter) c.1671del (p.Ile557fs) c.1680G>C (p.Trp560Cys) c.1798C>T (p.Arg600Ter) c.1837_1852dup (p.Gly618fs) c.1892C>T (p.Pro631Leu) c.1921C>T (p.Leu641Phe) c.1939G>A (p.Ala647Thr) c.2097C>A (p.Tyr699Ter) c.2101dup (p.Asp701fs) c.2144_2147dup (p.Asp716fs) |
[2222. Geis T, Rödl T, Topaloǧlu H, et al. Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders. Orphanet J Rare Dis. 2019;14(1):179. doi:10.1186/s13023-019-1119-0. https://doi.org/10.1186/s13023-019-1119-...
] [4545. van Reeuwijk J, Brunner HG, van Bokhoven H. Glyc-O-genetics of Walker-Warburg syndrome. Clin Genet. 2005;67(4):281-289. doi:10.1111/j.1399-0004.2004.00368.x. https://doi.org/10.1111/j.1399-0004.2004...
] [6060. Heywood WE, Bliss E, Mills P, et al. Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation. Mol Genet Metab Reports. 2016;7:55-62. doi:10.1016/j.ymgmr.2016.03.002. https://doi.org/10.1016/j.ymgmr.2016.03....
] [9696. Stalnaker SH, Aoki K, Lim JM, et al. Glycomic analyses of mouse models of congenital muscular dystrophy. J Biol Chem. 2011;286(24):21180-21190. doi:10.1074/jbc.M110.203281. https://doi.org/10.1074/jbc.M110.203281...
] [9797. Yagi H, Kuo CW, Obayashi T, Ninagawa S, Khoo KH, Kato K. Direct mapping of additional modifications on phosphorylated o-glycans of α-dystroglycan by mass spectrometry analysis in conjunction with knocking out of causative genes for dystroglycanopathy. Mol Cell Proteomics. 2016;15(11):3424-3434. doi:10.1074/mcp.M116.062729. https://doi.org/10.1074/mcp.M116.062729...
] [104104. Biancheri R, Bertini E, Falace A, et al. POMGnT1 mutations in congenital muscular dystrophy. Arch Neurol. 2006;63(10):1491. doi:10.1001/archneur.63.10.1491. https://doi.org/10.1001/archneur.63.10.1...
] [112112. Tokuoka H, Imae R, Nakashima H, et al. CDP-ribitol prodrug treatment ameliorates ISPD-deficient muscular dystrophy mouse model. Nat Commun. 2022;13(1):1847. doi:10.1038/s41467-022-29473-4. https://doi.org/10.1038/s41467-022-29473...
] [116116. Beltran-Valero de Bernabé D, Voit T, Longman C, et al. Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.J Med Genet. 2004;41(5):e61. doi:10.1136/jmg.2003.013870. https://doi.org/10.1136/jmg.2003.013870...
] [9898. Wallace SE, Conta JH, Winder TL, et al. A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations. Neuromuscul Disord. 2014;24(4):312-320. doi:10.1016/j.nmd.2014.01.001. https://doi.org/10.1016/j.nmd.2014.01.00...
] |
POMGNT1 NM_017739.4 |
MEB LGMD |
c.187C>T (p.Arg63Ter) c.593del (p.Ser198fs) c.595C>T (p.Gln199Ter) c.643C>T (p.Arg215Ter) c.931C>T (p.Arg311Ter) c.932G>A (p.Arg311Gln) c.1282C>T (p.Gln428Ter) c.1324C>T (p.Arg442Cys) c.1325G>A (p.Arg442His) c.1350_1354del (p.Trp451fs) c.1469G>A (p.Cys490Tyr) c.1478C>G (p.Pro493Arg) c.1694_1695del (p.Ser565fs) c.1738C>T (p.Arg580Ter) c.1769G>A (p.Trp590Ter) c.1719del (p.His573fs) c.1814G>A (p.Arg605His) c.1832del (p.Leu611fs) c.1895+1G>A c.1895C>G (p.Ser632Ter) c.1876del (p.Val626fs) |
[4747. Uribe ML, Haro C, Ventero MP, Campello L, Cruces J, Martín-Nieto J. Expression pattern in retinal photoreceptors of POMGnT1, a protein involved in muscle-eye-brain disease. Mol Vis. 2016;22:658-673.] [102102. Yiş U, Uyanik G, Rosendahl DM, et al.Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1. Pediatr Neurol. 2014;50(5):491-497. doi:10.1016/j.pediatrneurol.2014.01.008. https://doi.org/10.1016/j.pediatrneurol....
] [103103. Hehr U, Uyanik G, Gross C, et al. Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. Neurogenetics. 2007;8(4):279-288. doi:10.1007/s10048-007-0096-y. https://doi.org/10.1007/s10048-007-0096-...
] [104104. Biancheri R, Bertini E, Falace A, et al. POMGnT1 mutations in congenital muscular dystrophy. Arch Neurol. 2006;63(10):1491. doi:10.1001/archneur.63.10.1491. https://doi.org/10.1001/archneur.63.10.1...
] [105105. Vuillaumier-Barrot S, Bouchet-Seraphin C, Chelbi M, et al. Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies. Neuromuscul Disord. 2011;21(11):782-790. doi:10.1016/j.nmd.2011.06.001. https://doi.org/10.1016/j.nmd.2011.06.00...
] [106106. Diesen C, Saarinen A, Pihko H, et al. POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. J Med Genet. 2004;41(10):e115. doi:10.1136/jmg.2004.020701. https://doi.org/10.1136/jmg.2004.020701...
] [128128. Balci B, Morris-Rosendah DJ, Çelebi A, Talim B, Topaloǧlu H, Dinçer P. Prenatal diagnosis of muscle-eye-brain disease. Prenat Diagn. 2007;27(1):51-54. doi:10.1002/pd.1622. https://doi.org/10.1002/pd.1622...
] |
POMGNT2 NM_032806.6 |
LGMD |
c.118C>T (p.Arg40Ter) c.410_411delinsG (p.Ala137fs) c.494T>C (p.Met165Thr) c.503T>C (p.Phe168Ser) c.509del (p.Asp170fs) c.590G>A (p.Trp197Ter) c.745C>T (p.Gln249Ter) c.758C>T (p.Pro253Leu) c.820_821del (p.Lys274fs) c.1000_1003del (p.Leu334fs) c.1232_1233del (p.Gln411fs) c.1333C>T (p.Arg445Ter) c.494T˃C; c.758C˃T |
[9494. Sheikh MO, Wells L. Whoa man! Unexpected protein O-mannosylation pathways in mammals. J Biol Chem. 2017;292(27):11599-11600. doi:10.1074/jbc.H117.794487. https://doi.org/10.1074/jbc.H117.794487...
] [167167. Leibovitz Z, Mandel H, Falik-Zaccai TC, et al. Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation. Eur J Paediatr Neurol. 2018;22(3):525-531. doi:10.1016/j.ejpn.2017.12.012. https://doi.org/10.1016/j.ejpn.2017.12.0...
] [168168. Østergaard ST, Johnson K, Stojkovic T, et al. Limb girdle muscular dystrophy due to mutations in POMT2. J Neurol Neurosurg Psychiatry. 2018;89(5):506-512. doi:10.1136/jnnp-2017-317018. https://doi.org/10.1136/jnnp-2017-317018...
] |
B3GALNT2 NM_152490.5 |
WWS MEB LGMD |
c.51_73dup (p.Ser25fs) c.199C>T (p.Arg67Ter) c.308_309del (p.Val103fs) c.448C>T (p.Arg150Ter) c.753del (p.Val252fs) c.755T>G (p.Val252Gly) c.824_825dup (p.Ile276fs) c.875G>C (p.Arg292Pro) c.1066_1067del (p.Thr355_Asp356insTer) c.1423C>T (p.Gln475Ter) |
[178178. Maroofian R, Riemersma M, Jae LT, et al. B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies. Genome Med. 2017;9(1):118. doi:10.1186/s13073-017-0505-2. https://doi.org/10.1186/s13073-017-0505-...
] [117117. Chen XY, Song DY, Fan Y Bin, et al. Novel mutations in B3GALNT2 gene causing α-dystroglycanopathy in Chinese patients. Chin Med J (Engl). 2021;134(12):1483-1485. doi:10.1097/CM9.0000000000001283. https://doi.org/10.1097/CM9.000000000000...
] [179179. Hedberg C, Oldfors A, Darin N. B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations. Eur J Hum Genet. 2014;22(5):707-710. doi:10.1038/ejhg.2013.223. https://doi.org/10.1038/ejhg.2013.223...
] [180180. Wu WJ, Sun SZ, Li BG. Congenital muscular dystrophy caused by beta1,3-N- acetylgalactosaminyltransferase 2 gene mutation: Two case reports. World J Clin Cases. 2022;10(3):1056-1066. doi:10.12998/wjcc.v10.i3.1056. https://doi.org/10.12998/wjcc.v10.i3.105...
] [181181. Stevens E, Carss KJ, Cirak S, et al. Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan. Am J Hum Genet. 2013;92(3):354-365. doi:10.1016/j.ajhg.2013.01.016. https://doi.org/10.1016/j.ajhg.2013.01.0...
] [118118. Wang P, Jin P, Zhu L, et al. Prenatal diagnosis of Walker-Warburg syndrome due to compound mutations in the B3GALNT2 gene. J Gene Med. 2022;24(5):e3417. doi:10.1002/jgm.3417. https://doi.org/10.1002/jgm.3417...
] |
POMK NM_032237.5 |
WWS LGMD |
c.10C>T (p.Gln4Ter) c.43dup (p.Arg15fs) c.152del (p.Asp51fs) c.238_239del (p.Glu80fs) c.288del (p.Leu97fs) c.325C>T (p.Gln109Ter) c.386_387del (p.Leu129fs) c.410T>G (p.Leu137Arg) c.452_455dup (p.His152fs) c.907C>T (p.Arg303Ter) c.917dup (p.Leu306fs) |
[6767. Nagae M, Mishra SK, Neyazaki M, et al. 3D structural analysis of protein O -mannosyl kinase, POMK, a causative gene product of dystroglycanopathy. Genes to Cells. 2017;22(4):348-359. doi:10.1111/gtc.12480. https://doi.org/10.1111/gtc.12480...
] [182182. Strang-Karlsson S, Johnson K, Töpf A, et al. A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair. Neuromuscul Disord. 2018;28(7):614-618. doi:10.1016/j.nmd.2018.04.012. https://doi.org/10.1016/j.nmd.2018.04.01...
] [183183. Di Costanzo S, Balasubramanian A, Pond HL, et al. POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. Hum Mol Genet. 2014;23(21):5781-5792. doi:10.1093/hmg/ddu296. https://doi.org/10.1093/hmg/ddu296...
] [184184. Paul L, Rupprich K, Della Marina A, et al. Further evidence for POMK as candidate gene for WWS with meningoencephalocele. Orphanet J Rare Dis. 2020;15(1):242. doi:10.1186/s13023-020-01454-0. https://doi.org/10.1186/s13023-020-01454...
] |
Fukutin (FKTN) NM_001079802.2 |
WWS CMD-F |
c.42del (p.Thr14_Leu15insTer) c.78C>G (p.Tyr26Ter) c.93T>A (p.Tyr31Ter) c.139C>T (p.Arg47Ter) c.180dup (p.Phe61fs) c.187_188del (p.Met63fs) c.330dup (p.Thr111fs) c.346C>T (p.Gln116Ter) c.369+1G>C c.369+1G>T c.411C>A (p.Cys137Ter) c.454dup (p.Ser152fs) c.456_457del (p.Ser154fs) c.509C>A (p.Ala170Glu) c.527T>C (p.Phe176Ser) c.585dup (p.Asp196Ter) c.607C>T (p.Arg203Ter) c.642dup (p.Asp215Ter) c.648-1243G>T c.658C>T (p.Gln220Ter) c.756T>A (p.Tyr252Ter) c.766C>T (p.Arg256Ter) c.868A>T (p.Lys290Ter) c.914G>A (p.Trp305Ter) c.919C>T (p.Arg307Ter) c.920G>A (p.Arg307Gln) c.942T>G (p.Tyr314Ter) c.1022del (p.Pro341fs) c.1099del (p.Val367fs) c.1106del (p.Phe369fs) c.1167_1168dup (p.Phe390fs) c.1317_1318dup (p.Pro440fs) c.1363del (p.Asp455fs) c.5374_5846del |
[4545. van Reeuwijk J, Brunner HG, van Bokhoven H. Glyc-O-genetics of Walker-Warburg syndrome. Clin Genet. 2005;67(4):281-289. doi:10.1111/j.1399-0004.2004.00368.x. https://doi.org/10.1111/j.1399-0004.2004...
] [131131. Tachikawa M, Kanagawa M, Yu CC, Kobayashi K, Toda T. Mislocalization of fukutin protein by disease-causing missense mutations can be rescued with treatments directed at folding amelioration. J Biol Chem. 2012;287(11):8398-8406. doi:10.1074/jbc.M111.300905. https://doi.org/10.1074/jbc.M111.300905...
] [9393. Haro C, Uribe ML, Quereda C, Cruces J, Martín-Nieto J. Expression in retinal neurons of fukutin and FKRP, the protein products of two dystroglycanopathy-causative genes. Mol Vis. 2018;24:43-58.] [134134. Saito Y, Yamamoto T, Ohtsuka-Tsurumi E, et al. Fukutin expression in mouse non-muscle somatic organs: Its relationship to the hypoglycosylation of α-dystroglycan in Fukuyama-type congenital muscular dystrophy. Brain Dev. 2004;26(7):469-479. doi:10.1016/j.braindev.2004.01.004. https://doi.org/10.1016/j.braindev.2004....
] [132132. Silan F, Yoshioka M, Kobayashi K, et al. A new mutation of the fukutin gene in a non-Japanese patient. Ann Neurol. 2003;53(3):392-396. doi:10.1002/ana.10491. https://doi.org/10.1002/ana.10491...
] [133133. Vuillaumier-Barrot S, Quijano-Roy S, Bouchet-Seraphin C, et al. Four caucasian patients with mutations in the fukutin gene and variable clinical phenotype. Neuromuscul Disord. 2009;19(3):182-188. doi:10.1016/j.nmd.2008.12.005. https://doi.org/10.1016/j.nmd.2008.12.00...
] |
FKRP NM_024301.5 |
WWS MEB CMD-1C LGMD 2I |
c.77G>A (p.Trp26Ter) c.151G>T (p.Val51Phe) c.158_162dup (p.Glu55fs) c.162_165dup (p.Phe56fs) c.224del (p.Pro75fs) c.266C>T (p.Pro89Leu) c.313C>T (p.Gln105Ter) c.511_523del (p.Leu171fs) c.515dup (p.Asn172fs) c.526C>T (p.Arg176Ter) c.540_570dup (p.Cys191fs) c.650dup (p.Val218fs) c.826C>A (p.Leu276Ile) c.919del (p.Tyr307fs) c.919T>A (p.Tyr307Asn) c.928G>T (p.Glu310Ter) c.939G>A (p.Trp313Ter) c.948del (p.Cys317fs) c.970G>T (p.Glu324Ter) c.1075del (p.Trp359fs) c.1077_1078dup (p.Asp360fs) c.1154C>A (p.Ser385Ter) c.1170_1171del (p.Gly391fs) c.1213G>T (p.Val405Leu) c.1256_1257del (p.Pro419fs) c.1335_1336del (p.Leu446fs) c.1387A>G (p.Asn463Asp) c.1394A>C (p.Tyr465Ser) |
[2222. Geis T, Rödl T, Topaloǧlu H, et al. Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders. Orphanet J Rare Dis. 2019;14(1):179. doi:10.1186/s13023-019-1119-0. https://doi.org/10.1186/s13023-019-1119-...
] [4545. van Reeuwijk J, Brunner HG, van Bokhoven H. Glyc-O-genetics of Walker-Warburg syndrome. Clin Genet. 2005;67(4):281-289. doi:10.1111/j.1399-0004.2004.00368.x. https://doi.org/10.1111/j.1399-0004.2004...
] [6969. Alhamidi M, Kjeldsen Buvang E, Fagerheim T, et al. Fukutin-related protein resides in the Golgi cisternae of skeletal muscle fibres and forms disulfide-linked homodimers via an N-terminal interaction. PLoS One. 2011;6(8):e22968. doi:10.1371/journal.pone.0022968. https://doi.org/10.1371/journal.pone.002...
] [141141. Brockington M, Yuva Y, Prandini P, et al. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 21 as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum Mol Genet. 2001;10(25):2851-2859. doi:10.1093/hmg/10.25.2851. https://doi.org/10.1093/hmg/10.25.2851...
] [116116. Beltran-Valero de Bernabé D, Voit T, Longman C, et al. Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.J Med Genet. 2004;41(5):e61. doi:10.1136/jmg.2003.013870. https://doi.org/10.1136/jmg.2003.013870...
] [185185. Esapa CT, McIlhinney RAJ, Blake DJ. Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells. Hum Mol Genet. 2005;14(2):295-305. doi:10.1093/hmg/ddi026. https://doi.org/10.1093/hmg/ddi026...
] [127127. Kobayashi K, Nakahori Y, Miyake M, et al. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature. 1998;394(6691):388-392. doi:10.1038/28653. https://doi.org/10.1038/28653...
] [143143. Wahbi K, Meune C, Hamouda EH, et al. Cardiac assessment of limb-girdle muscular dystrophy 2I patients: An echography, Holter ECG and magnetic resonance imaging study. Neuromuscul Disord. 2008;18(8):650-655. doi:10.1016/j.nmd.2008.06.365. https://doi.org/10.1016/j.nmd.2008.06.36...
] [144144. Ortiz-Cordero C, Azzag K, Perlingeiro RCR. Fukutin-related protein: From pathology to treatments. Trends Cell Biol. 2021;31(3):197-210. doi:10.1016/j.tcb.2020.11.003. https://doi.org/10.1016/j.tcb.2020.11.00...
] |
ISPD(CRPPA) NM_001101426.4 |
LGMD WWS |
c.258-2A>G c.364G>C (p.Ala122Pro) c.466G>A (p.Asp156Asn) c.550C>T (p.Arg184Ter) c.638T>G (p.Met213Arg) c.643C>T (p.Gln215Ter) c.647C>A (p.Ala216Asp) c.704_705del (p.Glu235fs) c.773C>A (p.Ser258Ter) c.789+2T>G c.802C>T (p.Arg268Ter) c.835+2T>C c.(534+1_535-1)_(933+1_934-1)del c.1120-1G>T c.1123_1126del (p.His375fs) c.1354T>A (p.Ter452Arg) |
[107107. Yang H, Cai F, Liao H, Gan S, Xiao T, Wu L. Case report: ISPD gene mutation leads to dystroglycanopathies: Genotypic phenotype analysis and treatment exploration. Front Pediatr. 2021;9:1-7. doi:10.3389/fped.2021.710553. https://doi.org/10.3389/fped.2021.710553...
] [122122. Roscioli T, Kamsteeg EJ, Buysse K, et al. Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nat Genet. 2012;44(5):581-585. doi:10.1038/ng.2253. https://doi.org/10.1038/ng.2253...
] [108108. Biswal S, Panigrahi D, Mohakud N, Kumar M, Swain N. A child of congenital muscular dystrophy-dystroglycanopathy with homozygous missense variation in exon 3 of the ISPD Gene: A rare case from Odisha. Adv Biomed Res. 2020;9(1):70. doi:10.4103/abr.abr_141_19. https://doi.org/10.4103/abr.abr_141_19...
] [110110. Willer T, Lee H, Lommel M, et al. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet. 2012;44(5):575-580. doi:10.1038/ng.2252. https://doi.org/10.1038/ng.2252...
] [111111. Magri F, Colombo I, Del Bo R, et al. ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases. BMC Neurol. 2015;15(1):172. doi:10.1186/s12883-015-0428-8. https://doi.org/10.1186/s12883-015-0428-...
] [112112. Tokuoka H, Imae R, Nakashima H, et al. CDP-ribitol prodrug treatment ameliorates ISPD-deficient muscular dystrophy mouse model. Nat Commun. 2022;13(1):1847. doi:10.1038/s41467-022-29473-4. https://doi.org/10.1038/s41467-022-29473...
] [109109. Cirak S, Foley AR, Herrmann R, et al. ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. Brain. 2013;136(1):269-281. doi:10.1093/brain/aws312. https://doi.org/10.1093/brain/aws312...
] |
TMEM5/ RXYLT1 NM_014254.3 |
Cobblestome Lissencephaly |
c.169+2T>C c.279del (p.Gly94fs) c.429-2A>G c.649del (p.Arg217fs) c.795del (p.Arg266fs) c.1018C>T (p.Arg340Ter) c.1064_1091del (p.Asp355fs) |
[154154. Kanagawa M, Kobayashi K, Tajiri M, et al. Identification of a post-translational modification with ribitol-phosphate and its defect in muscular dystrophy. Cell Rep. 2016;14(9):2209-2223. doi:10.1016/j.celrep.2016.02.017. https://doi.org/10.1016/j.celrep.2016.02...
] [186186. Vuillaumier-Barrot S, Bouchet-Séraphin C, Chelbi M, et al. Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. Am J Hum Genet. 2012;91(6):1135-1143. doi:10.1016/j.ajhg.2012.10.009. https://doi.org/10.1016/j.ajhg.2012.10.0...
] [187187. Astrea G, Pezzini I, Picillo E, et al. TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement. Neuromuscul Disord. 2016;26(7):459-461. doi:10.1016/j.nmd.2016.05.003. https://doi.org/10.1016/j.nmd.2016.05.00...
] |
B4GAT1 NM_006876.3 NM_006876.2 |
WWS |
c.1207G>T (p.Glu403Ter) c.1168A>G; c.1217C>T c.864T>A (p.Tyr288Ter) c.821_822insTT (p.Glu274fs) |
[188188. Alazami AM, Patel N, Shamseldin HE, et al. Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. Cell Rep. 2015;10(2):148-161. doi:10.1016/j.celrep.2014.12.015. https://doi.org/10.1016/j.celrep.2014.12...
] [189189. Buysse K, Riemersma M, Powell G, et al. Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. Hum Mol Genet. 2013;22(9):1746-1754. doi:10.1093/hmg/ddt021. https://doi.org/10.1093/hmg/ddt021...
] |
LARGE1 NM_133642.5 |
WWS MEB CMD-1D |
c.265C>T (p.Arg89Ter) c.283C>T (p.Arg95Ter) c.334G>T (p.Glu112Ter) c.620_621del (p.Glu207fs) c.871del (p.Gly292fs) c.992C>T (p.Ser331Phe) c.1102C>T (p.Gln368Ter) c.1209del (p.Phe404fs) c.1483T>C (p.Trp495Arg) c.1525G>A (p.Glu509Lys) c.1699del (p.Leu567fs) c.1811del (p.Leu604fs) c.1999dup (p.Cys667fs) c.2089G>T (p.Val697Leu) |
[129129. Whitmore C, Fernandez-Fuente M, Booler H, et al. The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice. Hum Mol Genet. 2014;23(7):1842-1855. doi:10.1093/hmg/ddt577. https://doi.org/10.1093/hmg/ddt577...
] [148148. Saito F, Kanagawa M, Ikeda M, et al. Overexpression of LARGE suppresses muscle regeneration via down-regulation of insulin-like growth factor 1 and aggravates muscular dystrophy in mice. Hum Mol Genet. 2014;23(17):4543-4558. doi:10.1093/hmg/ddu168. https://doi.org/10.1093/hmg/ddu168...
] [149149. Peyrard M, Seroussi E, Sandberg-Nordqvist AC, et al. The human LARGE gene from 22q12.3-q13.1 is a new, distinct member of the glycosyltransferase gene family. Proc Natl Acad Sci U S A. 1999;96(2):598-603. doi:10.1073/pnas.96.2.598. https://doi.org/10.1073/pnas.96.2.598...
] [138138. Clarke NF, Maugenre S, Vandebrouck A, et al. Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene. Eur J Hum Genet. 2011;19(4):452-457. doi:10.1038/ejhg.2010.212. https://doi.org/10.1038/ejhg.2010.212...
] [137137. Longman C, Brockington M, Torelli S, et al. Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan. Hum Mol Genet. 2003;12(21):2853-2861. doi:10.1093/hmg/ddg307. https://doi.org/10.1093/hmg/ddg307...
] [130130. Meilleur KG, Zukosky K, Medne L, et al. Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations. J Neuropathol Exp Neurol. 2014;73(5):425-441. doi:10.1097/NEN.0000000000000065. https://doi.org/10.1097/NEN.000000000000...
] |
GMPPB NM_021971.4 |
LGMD |
c.395C>G (p.S132C) c.64C>T (p.Pro22Ser) c.79G>C (p.D27H) c.94C>T (p.P32S) c.109C>T (p.Gln37Ter) c.220C>T (p.Arg74Ter) c.271_283del (p.Ala91fs) c.294dup (p.Glu99Ter) c.365_366dup (p.Phe123fs) c.458_459del (p.Thr153fs) c.458C>T (p.Thr153Ile) c.553C>T (p.Arg185Cys) c.611_614del (p.Glu204fs) c.640+1G>A c.656T>C (p.Ile219Thr) c.721C>T(p.P241S); c.728_746delinsACAGA (p.Arg243fs) c.790C>T (p.Gln264Ter) c.859C>T (p.Arg287Trp) c.1034T>C(p.V345A) |
[190190. Jensen BS, Willer T, Saade DN, et al. GMPPB -Associated dystroglycanopathy: Emerging common variants with phenotype correlation. Hum Mutat. 2015;36(12):1159-1163. doi:10.1002/humu.22898. https://doi.org/10.1002/humu.22898...
] [191191. Raphael AR, Couthouis J, Sakamuri S, et al. Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations. Brain Res. 2014;1575(1):66-71. doi:10.1016/j.brainres.2014.04.028. https://doi.org/10.1016/j.brainres.2014....
] [192192. Belaya K, Rodríguez Cruz PM, Liu WW, et al. Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. Brain. 2015;138(9):2493-2504. doi:10.1093/brain/awv185. https://doi.org/10.1093/brain/awv185...
] |