Molecular genetics of congenital myotonic dystrophy

Ashizawa, 1992, Anticipation in myotonic dystrophy. I. Statistical verification based on clinical and haplotype findings, Neurology, 42, 1871, 10.1212/WNL.42.10.1871 Ashizawa, 1993, Somatic instability of CTG repeat in myotonic dystrophy, Neurology, 43, 2674, 10.1212/WNL.43.12.2674 Aslanidis, 1992, Cloning of the essential myotonic dystrophy region and mapping of the putative defect, Nature, 355, 548, 10.1038/355548a0 Banez-Coronel, 2015, RAN translation in huntington disease, Neuron, 88, 667, 10.1016/j.neuron.2015.10.038 Barbe, 2017, CpG methylation, a parent-of-origin effect for maternal-biased transmission of congenital myotonic dystrophy, Am. J. Hum. Genet., 100, 488, 10.1016/j.ajhg.2017.01.033 Barcelo, 1994, Additive influence of maternal and offspring DM-kinase gene CTG repeat lengths in the genesis of congenital myotonic dystrophy, Am. J. Hum. Genet., 54, 1124 Batra, 2014, Loss of MBNL leads to disruption of developmentally regulated alternative polyadenylation in RNA-mediated disease, Mol. Cell, 56, 311, 10.1016/j.molcel.2014.08.027 Berggren, 2018, Orofacial strength, dysarthria, and dysphagia in congenital myotonic dystrophy, Muscle Nerve, 58, 413, 10.1002/mus.26176 Bergman, 2013, DNA methylation dynamics in health and disease, Nat. Struct. Mol. Biol., 20, 274, 10.1038/nsmb.2518 Bergoffen, 1994, Paternal transmission of congenital myotonic dystrophy, J. Med. Genet., 31, 518, 10.1136/jmg.31.7.518 Brook, 1992, Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member, Cell, 69, 385 Brouwer, 2013, Transcriptionally repressive chromatin remodelling and CpG methylation in the presence of expanded CTG-repeats at the DM1 locus, J. Nucleic Acids, 2013, 567435, 10.1155/2013/567435 Brykczynska, 2016 Buckley, 2016, Epigenetics of the myotonic dystrophy-associated DMPK gene neighborhood, Epigenomics, 8, 13, 10.2217/epi.15.104 Campbell, 2013, Congenital myotonic dystrophy: Canadian population-based surveillance study, J. Pediatr., 163, e121 Cho, 2005, Antisense transcription and heterochromatin at the DM1 CTG repeats are constrained by CTCF, Mol. Cell, 20, 483, 10.1016/j.molcel.2005.09.002 Clark, 1998, Late presentation of myotonic dystrophy, Clin. Exp. Dermatol., 23, 47, 10.1046/j.1365-2230.1998.00294.x Clarke, 2015, Epigenetic inheritance through the female germ-line: The known, the unknown, and the possible, Semin. Cell Dev. Biol., 43, 106, 10.1016/j.semcdb.2015.07.003 Cleary, 2010, Tissue- and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus, Nat. Struct. Mol. Biol., 17, 1079, 10.1038/nsmb.1876 Cobo, 1993, Sex-related difference in intergenerational expansion of myotonic dystrophy gene, Lancet, 341, 1159, 10.1016/0140-6736(93)93186-5 Cobo, 1995, Contribution of molecular analyses to the estimation of the risk of congenital myotonic dystrophy, J. Med. Genet., 32, 105, 10.1136/jmg.32.2.105 Dalphin, 1992, Congenital myotonic dystrophy. diagnostic difficulties, Pediatrie, 47, 677 Day, 2003, Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum, Neurology, 60, 657, 10.1212/01.WNL.0000054481.84978.F9 De Antonio, 2016, Unravelling the myotonic dystrophy type 1 clinical spectrum: a systematic registry-based study with implications for disease classification, Rev. Neurol., 172, 572, 10.1016/j.neurol.2016.08.003 de Die-Smulders, 1997, Paternal transmission of congenital myotonic dystrophy, J. Med. Genet., 34, 930, 10.1136/jmg.34.11.930 Dean, 2006, Instability in the transmission of the myotonic dystrophy CTG repeat in human oocytes and preimplantation embryos, Fertil. Steril., 86, 98, 10.1016/j.fertnstert.2005.12.025 Di Costanzo, 2009, Paternally inherited case of congenital DM1: brain MRI and review of literature, Brain and Development, 31, 79, 10.1016/j.braindev.2008.04.008 DiRocco, 1996, Diagnostic problems in congenital myotonic dystrophy, Eur. J. Pediatr., 155, 995, 10.1007/BF02282900 Dogan, 2016, Gender as a modifying factor influencing myotonic dystrophy Type 1 phenotype severity and mortality: a nationwide multiple databases cross-sectional observational study, PLoS One, 11, 10.1371/journal.pone.0148264 Erikson, 1995, Outcome of pregnancy in women with myotonic dystrophy and analysis of CTG gene expansion, Acta Paediatr., 84, 416, 10.1111/j.1651-2227.1995.tb13662.x Filippova, 2001, CTCF-binding sites flank CTG/CAG repeats and form a methylation-sensitive insulator at the DM1 locus, Nat. Genet., 28, 335, 10.1038/ng570 Frisch, 2001, Effect of triplet repeat expansion on chromatin structure and expression of DMPK and neighboring genes, SIX5 and DMWD, in myotonic dystrophy, Mol. Genet. Metab., 74, 281, 10.1006/mgme.2001.3229 Geifman-Holtzman, 1998, Prenatal diagnosis of congenital myotonic dystrophy and counseling of the pregnant mother: case report and literature review, Am. J. Med. Genet., 78, 250, 10.1002/(SICI)1096-8628(19980707)78:3<250::AID-AJMG8>3.0.CO;2-T Harley, 1993, Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy, Am. J. Hum. Genet., 52, 1164 Harper, 1972, Early-onset dystrophia myotonica, Evid. Supporting Matern. Environ. Factor Lancet, 2, 53 Harper, 1992, Anticipation in myotonic dystrophy: new light on an old problem, Am. J. Hum. Genet., 51, 10 Hecht, 1993, Direct molecular diagnosis of myotonic dystrophy, Clin. Genet., 43, 276, 10.1111/j.1399-0004.1993.tb03819.x Ho, 2015, Congenital and childhood myotonic dystrophy: current aspects of disease and future directions, World J. Clin. Pediatr., 4, 66, 10.5409/wjcp.v4.i4.66 Hojo, 1995, Congenital myotonic dystrophy: molecular diagnosis and clinical study, Am. J. Perinatol., 12, 195, 10.1055/s-2007-994451 Jaffe, 1986, Myotonic dystrophy and pregnancy: a review, Obstet. Gynecol. Surv., 41, 272, 10.1097/00006254-198605000-00003 Jansen, 1994, Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm, Am. J. Hum. Genet., 54, 575 Johnson, 2016, Disease burden and functional outcomes in congenital myotonic dystrophy: a cross-sectional study, Neurology, 87, 160, 10.1212/WNL.0000000000002845 Johnson, 2016, Parent-reported multi-national study of the impact of congenital and childhood onset myotonic dystrophy, Dev. Med. Child Neurol., 58, 698, 10.1111/dmcn.12948 Joseph, 1997, Congenital myotonic dystrophy pathology and somatic mosaicism, Neurology, 49, 1457, 10.1212/WNL.49.5.1457 Klesert, 2000, Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy, Nat. Genet., 25, 105, 10.1038/75490 Koch, 1991, Genetic risks for children of women with myotonic dystrophy, Am. J. Hum. Genet., 48, 1084 Krol, 2007, Ribonuclease dicer cleaves triplet repeat hairpins into shorter repeats that silence specific targets, Mol. Cell, 25, 575, 10.1016/j.molcel.2007.01.031 Lagrue, 2019, A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management, Neurology, 92, e852, 10.1212/WNL.0000000000006948 Lanni, 2013, Role of CTCF protein in regulating FMR1 locus transcription, PLoS Genet., 9, 10.1371/journal.pgen.1003601 Laurent, 1997, Myotonic dystrophy protein kinase gene expression in skeletal muscle from congenitally affected infants, Ann. Genet., 40, 169 Lavedan, 1993, Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism, Am. J. Hum. Genet., 52, 875 Libby, 2008, CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination, PLoS Genet., 4, 10.1371/journal.pgen.1000257 Lister, 2009, Human DNA methylomes at base resolution show widespread epigenomic differences, Nature, 462, 315, 10.1038/nature08514 Lopez Castel, 2010, Repeat instability as the basis for human diseases and as a potential target for therapy, Nat. Rev. Mol. Cell Biol., 11, 165, 10.1038/nrm2854 Lopez Castel, 2011, Identification of restriction endonucleases sensitive to 5-cytosine methylation at non-CpG sites, including expanded (CAG)n/(CTG)n repeats, Epigenetics, 6, 416, 10.4161/epi.6.4.14953 Lopez Castel, 2011, Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues, Hum. Mol. Genet., 20, 1, 10.1093/hmg/ddq427 Lopez de Munain, 1995, Influence of the sex of the transmitting grandparent in congenital myotonic dystrophy, J. Med. Genet., 32, 689, 10.1136/jmg.32.9.689 Lucifero, 2002, Methylation dynamics of imprinted genes in mouse germ cells, Genomics, 79, 530, 10.1006/geno.2002.6732 Luo, 2018, Biparental inheritance of mitochondrial DNA in humans, Proc. Natl. Acad. Sci. U. S. A., 115, 13039, 10.1073/pnas.1810946115 Ly, 2015, Developmental windows of susceptibility for epigenetic inheritance through the male germline, Semin. Cell Dev. Biol., 43, 96, 10.1016/j.semcdb.2015.07.006 Maatouk, 2003, Continuing primordial germ cell differentiation in the mouse embryo is a cell-intrinsic program sensitive to DNA methylation, Dev. Biol., 258, 201, 10.1016/S0012-1606(03)00110-6 Mahadevan, 1992, Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene, Science, 255, 1253, 10.1126/science.1546325 Malter, 1997, Characterization of the full fragile X syndrome mutation in fetal gametes, Nat. Genet., 15, 165, 10.1038/ng0297-165 Martorell, 1997, Somatic instability of the myotonic dystrophy (CTG)n repeat during human fetal development, Hum. Mol. Genet., 6, 877, 10.1093/hmg/6.6.877 Martorell, 1998, Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients, Hum. Mol. Genet., 7, 307, 10.1093/hmg/7.2.307 Martorell, 2004, Germline mutational dynamics in myotonic dystrophy type 1 males: allele length and age effects, Neurology, 62, 269, 10.1212/WNL.62.2.269 Masuda, 2012, CUGBP1 and MBNL1 preferentially bind to 3' UTRs and facilitate mRNA decay, Sci. Rep., 2, 209, 10.1038/srep00209 McCormick, 2018, Mitochondrial Genomics: A complex field now coming of age, Curr. Genet. Med. Rep., 6, 52, 10.1007/s40142-018-0137-x McWilliams, 2019, Mitochondrial DNA can be inherited from fathers, not just mothers, Nature, 565, 296, 10.1038/d41586-019-00093-1 Michel, 2015, Sense and antisense DMPK RNA foci accumulate in DM1 tissues during development, PLoS One, 10, 10.1371/journal.pone.0137620 Morales, 2012, Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity, Hum. Mol. Genet., 21, 3558, 10.1093/hmg/dds185 Morales, 2015, Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1, Eur. J. Hum. Genet., 23, 646, 10.1038/ejhg.2014.138 Mori, 2013, The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS, Science, 339, 1335, 10.1126/science.1232927 Mulley, 1993, Explanation for exclusive maternal origin for congenital form of myotonic dystrophy, Lancet, 341, 236, 10.1016/0140-6736(93)90096-Y Nakagawa, 1994, A case of paternally inherited congenital myotonic dystrophy, J. Med. Genet., 31, 397, 10.1136/jmg.31.5.397 Nakamori, 2017, Aberrant myokine signaling in congenital myotonic dystrophy, Cell Rep., 21, 1240, 10.1016/j.celrep.2017.10.018 Novelli, 1995, Discordant clinical outcome in myotonic dystrophy relatives showing (CTG)n > 700 repeats, Neuromuscul. Disord., 5, 157, 10.1016/0960-8966(94)00044-A Ohya, 1994, Congenital myotonic dystrophy transmitted from an asymptomatic father with a DM-specific gene, Neurology, 44, 1958, 10.1212/WNL.44.10.1958 Ohya, 1995, Somatic cell heterogeneity between DNA extracted from lymphocytes and skeletal muscle in congenital myotonic dystrophy, Jpn. J. Hum. Genet., 40, 319, 10.1007/BF01900598 Otten, 1995, Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure, Proc. Natl. Acad. Sci. U. S. A., 92, 5465, 10.1073/pnas.92.12.5465 Overend, 2019, Allele length of the DMPK CTG repeat is a predictor of progressive myotonic dystrophy type 1 phenotypes., Hum Mol Genet., 28, 2245, 10.1093/hmg/ddz055 Passos-Bueno, 1995, Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 Brazilian families, J. Med. Genet., 32, 14, 10.1136/jmg.32.1.14 Pearson, 2003, Slipping while sleeping? Trinucleotide repeat expansions in germ cells, Trends Mol. Med., 9, 490, 10.1016/j.molmed.2003.09.006 Pinney, 2014, Mammalian Non-CpG methylation: stem cells and beyond, Biology, 3, 739, 10.3390/biology3040739 Poulton, 1992, Congenital myotonic dystrophy and mtDNA, Am. J. Hum. Genet., 50, 651 Poulton, 1995, Mitochondrial DNA does not appear to influence the congenital onset type of myotonic dystrophy, J. Med. Genet., 32, 732, 10.1136/jmg.32.9.732 Prasad, 2016, Developmental Milestones and Quality of Life Assessment in a Congenital Myotonic Dystrophy Cohort, J. Neuromuscul. Dis., 3, 405, 10.3233/JND-160165 Pucillo, 2017, Physical function and mobility in children with congenital myotonic dystrophy, Muscle Nerve, 56, 224, 10.1002/mus.25482 Rakocevic-Stojanovic, 2005, Intergenerational changes of CTG repeat depending on the sex of the transmitting parent in myotonic dystrophy type 1, Eur. J. Neurol., 12, 236, 10.1111/j.1468-1331.2004.01075.x Ramsahoye, 2000, Non-CpG methylation is prevalent in embryonic stem cells and may be mediated by DNA methyltransferase 3a, Proc. Natl. Acad. Sci. U. S. A., 97, 5237, 10.1073/pnas.97.10.5237 Reik, 2007, Stability and flexibility of epigenetic gene regulation in mammalian development, Nature, 447, 425, 10.1038/nature05918 Rizzo, 2018, Activation of the interferon type I response rather than autophagy contributes to myogenesis inhibition in congenital DM1 myoblasts, Cell Death Dis., 9, 1071, 10.1038/s41419-018-1080-1 Salat, 2000, Increase of FMRP expression, raised levels of FMR1 mRNA, and clonal selection in proliferating cells with unmethylated fragile X repeat expansions: a clue to the sex bias in the transmission of full mutations?, J. Med. Genet., 37, 842, 10.1136/jmg.37.11.842 Sarkar, 2000, Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts, Nat. Genet., 25, 110, 10.1038/75500 Sarkar, 2004, Six5 is required for spermatogenic cell survival and spermiogenesis, Hum. Mol. Genet., 13, 1421, 10.1093/hmg/ddh161 Shaw, 1993, A study of DNA methylation in myotonic dystrophy, J. Med. Genet., 30, 189, 10.1136/jmg.30.3.189 Sopher, 2011, CTCF regulates ataxin-7 expression through promotion of a convergently transcribed, antisense noncoding RNA, Neuron, 70, 1071, 10.1016/j.neuron.2011.05.027 Spranger, 1999, Disease picture of myotonic muscular dystrophy in patients with large CTG triplet expansion, Nervenarzt, 70, 131, 10.1007/s001150050413 Steinbach, 1998, The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded CTG repeat, Am. J. Hum. Genet., 62, 278, 10.1086/301711 Sun, 1999, Nonrandom X inactivation and selection of fragile X full mutation in fetal fibroblasts, Am. J. Med. Genet., 86, 162, 10.1002/(SICI)1096-8628(19990910)86:2<162::AID-AJMG14>3.0.CO;2-D Tachi, 1995, Minimal somatic instability of CTG repeat in congenital myotonic dystrophy, Pediatr. Neurol., 12, 81, 10.1016/0887-8994(94)00112-F Tachi, 1997, Haplotype analysis of congenital myotonic dystrophy patients from asymptomatic DM father, Pediatr. Neurol., 16, 315, 10.1016/S0887-8994(97)00042-8 Tanaka, 2000, Congenital myotonic dystrophy: report of paternal transmission, Brain and Development, 22, 132, 10.1016/S0387-7604(99)00128-X Thomas, 2017, Disrupted prenatal RNA processing and myogenesis in congenital myotonic dystrophy, Genes Dev., 31, 1122, 10.1101/gad.300590.117 Thornton, 1994, Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes, Ann. Neurol., 35, 104, 10.1002/ana.410350116 Thyagarajan, 1991, Mitochondrial DNA sequence analysis in congenital myotonic dystrophy, Ann. Neurol., 30, 724, 10.1002/ana.410300514 Thyagarajan, 1993, mtDNA in congenital myotonic dystrophy, Am. J. Hum. Genet., 52, 207 Todd, 2013, CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome, Neuron, 78, 440, 10.1016/j.neuron.2013.03.026 Tsilfidis, 1992, Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy, Nat. Genet., 1, 192, 10.1038/ng0692-192 Vazquez, 1990, Hypothalamic-pituitary-testicular function in 70 patients with myotonic dystrophy, J. Endocrinol. Investig., 13, 375, 10.1007/BF03350681 Verrijn Stuart, 2000, "Shake hands"; diagnosing a floppy infant--myotonic dystrophy and the congenital subtype: a difficult perinatal diagnosis, J. Perinat. Med., 28, 497, 10.1515/JPM.2000.067 Wang, 2012, Transcriptome-wide regulation of pre-mRNA splicing and mRNA localization by muscleblind proteins, Cell, 150, 710, 10.1016/j.cell.2012.06.041 Webb, 1978, Myotonia dystrophica: obstetric complications, Am. J. Obstet. Gynecol., 132, 265, 10.1016/0002-9378(78)90891-8 Willemsen, 2002, Timing of the absence of FMR1 expression in full mutation chorionic villi, Hum. Genet., 110, 601, 10.1007/s00439-002-0723-5 Wohrle, 1995, Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro: evidence for a casual involvement of methyl-directed DNA mismatch repair in triplet repeat stability, Hum. Mol. Genet., 4, 1147, 10.1093/hmg/4.7.1147 Wong, 1997, Instability of the (CTG)n repeat in congenital myotonic dystrophy, Am. J. Hum. Genet., 61, 1445, 10.1086/301654 Yanovsky-Dagan, 2015, Uncovering the role of hypermethylation by CTG expansion in myotonic dystrophy type 1 using mutant human embryonic stem cells, Stem Cell Rep., 5, 221, 10.1016/j.stemcr.2015.06.003 Zapata-Aldana, 2018, Prenatal, neonatal, and early childhood features in congenital myotonic dystrophy, J. Neuromuscul. Dis., 5, 331, 10.3233/JND-170277 Zatz, 1995, Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur?, Hum. Mol. Genet., 4, 401, 10.1093/hmg/4.3.401 Zeesman, 2002, Paternal transmission of the congenital form of myotonic dystrophy type 1: a new case and review of the literature, Am. J. Med. Genet., 107, 222, 10.1002/ajmg.10141 Zu, 2011, Non-ATG-initiated translation directed by microsatellite expansions, Proc. Nat. Acad. Sci. U. S. A., 108, 260, 10.1073/pnas.1013343108 Zu, 2013, RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia, Proc. Nat. Acad. Sci. U. S. A., 110, E4968, 10.1073/pnas.1315438110 Zu, 2017, RAN translation regulated by muscleblind proteins in myotonic dystrophy type 2, Neuron, 95