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Volumn 23, Issue 5, 2015, Pages 646-653

Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; COSTA RICAN; DISEASE TRANSMISSION; FATHER; FEMALE; HUMAN; MAJOR CLINICAL STUDY; MALE; MOSAICISM; MOTHER; MYOTONIC DYSTROPHY; NUCLEOTIDE SEQUENCE; ONSET AGE; PARENTAL AGE; PRIORITY JOURNAL; SEX; ADULT; AGE; COSTA RICA; FAMILY; GENETIC SUSCEPTIBILITY; INHERITANCE; PARENT; PREGNANCY; PRENATAL EXPOSURE; SEX DIFFERENCE; TRINUCLEOTIDE REPEAT;

EID: 84928056677     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.138     Document Type: Article
Times cited : (24)

References (43)
  • 3
    • 0026567370 scopus 로고
    • Cloning of the essential myotonic dystrophy region and mapping of the putative defect
    • Aslanidis C, Jansen G, Amemiya C et al: Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature 1992; 355: 548-550.
    • (1992) Nature , vol.355 , pp. 548-550
    • Aslanidis, C.1    Jansen, G.2    Amemiya, C.3
  • 4
    • 0026566108 scopus 로고
    • Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 30 end of a transcript encoding a protein kinase family member
    • Brook JD, McCurrach ME, Harley HG et al: Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 30 end of a transcript encoding a protein kinase family member. Cell 1992; 68: 799-808.
    • (1992) Cell , vol.68 , pp. 799-808
    • Brook, J.D.1    McCurrach, M.E.2    Harley, H.G.3
  • 5
    • 0026584805 scopus 로고
    • Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy
    • Buxton J, Shelbourne P, Davies J et al: Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 1992; 355: 547-548.
    • (1992) Nature , vol.355 , pp. 547-548
    • Buxton, J.1    Shelbourne, P.2    Davies, J.3
  • 6
    • 0026598119 scopus 로고
    • An unstable triplet repeat in a gene related to myotonic muscular dystrophy
    • Fu YH, Pizzuti A, Fenwick RG et al: An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 1992; 255: 1256-1258.
    • (1992) Science , vol.255 , pp. 1256-1258
    • Fu, Y.H.1    Pizzuti, A.2    Fenwick, R.G.3
  • 7
    • 0026601924 scopus 로고
    • Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
    • Harley HG, Brook JD, Rundle SA et al: Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 1992; 355: 545-546.
    • (1992) Nature , vol.355 , pp. 545-546
    • Harley, H.G.1    Brook, J.D.2    Rundle, S.A.3
  • 8
    • 0026603841 scopus 로고
    • Myotonic dystrophy mutation: An unstable CTG repeat in the 3 untranslated region of the gene
    • Mahadevan M, Tsilfidis C, Sabourin L et al: Myotonic dystrophy mutation: an unstable CTG repeat in the 3 untranslated region of the gene. Science 1992; 255: 1253-1255.
    • (1992) Science , vol.255 , pp. 1253-1255
    • Mahadevan, M.1    Tsilfidis, C.2    Sabourin, L.3
  • 9
    • 0026457624 scopus 로고
    • The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy
    • Hunter A, Tsilfidis C, Mettler G et al: The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy. J Med Genet 1992; 29: 774-779.
    • (1992) J Med Genet , vol.29 , pp. 774-779
    • Hunter, A.1    Tsilfidis, C.2    Mettler, G.3
  • 10
    • 0027485748 scopus 로고
    • Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy
    • Harley HG, Rundle SA, MacMillan JC et al: Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy. Am J Hum Genet 1993; 52: 1164-1174.
    • (1993) Am J Hum Genet , vol.52 , pp. 1164-1174
    • Harley, H.G.1    Rundle, S.A.2    Macmillan, J.C.3
  • 11
    • 0027408596 scopus 로고
    • Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring
    • Redman JB, Fenwick RG, Fu Y-H, Pizzuti A, Caskey CT: Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring. J Am Med Assoc 1993; 269: 1960-1965.
    • (1993) J Am Med Assoc , vol.269 , pp. 1960-1965
    • Redman, J.B.1    Fenwick, R.G.2    Fu, Y.-H.3    Pizzuti, A.4    Caskey, C.T.5
  • 12
    • 0026802316 scopus 로고
    • Anticipation in myotonic dystrophy. II. Complex relationships between clinical findings and structure of the GCT repeat
    • Ashizawa T, Dubel JR, Dunne PWet al: Anticipation in myotonic dystrophy. II. Complex relationships between clinical findings and structure of the GCT repeat. Neurology 1992; 42: 1877-1883.
    • (1992) Neurology , vol.42 , pp. 1877-1883
    • Ashizawa, T.1    Dubel, J.R.2    Pwet Al, D.3
  • 13
    • 0027366978 scopus 로고
    • Myotonic dystrophy: Size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism
    • Lavedan C, Hofmann-Radvanyi H, Shelbourne P et al: Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism. Am J Hum Genet 1993; 52: 875-883.
    • (1993) Am J Hum Genet , vol.52 , pp. 875-883
    • Lavedan, C.1    Hofmann-Radvanyi, H.2    Shelbourne, P.3
  • 14
    • 0028013626 scopus 로고
    • Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy
    • Ashizawa T, Anvret M, Baiget M et al: Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy. Am J Hum Genet 1994; 54: 414-423.
    • (1994) Am J Hum Genet , vol.54 , pp. 414-423
    • Ashizawa, T.1    Anvret, M.2    Baiget, M.3
  • 15
    • 0027420436 scopus 로고
    • Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM)
    • Brunner HG, Bruggenwirth HT, Nillesen W et al: Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM). Am J Hum Genet 1993; 53: 1016-1023.
    • (1993) Am J Hum Genet , vol.53 , pp. 1016-1023
    • Brunner, H.G.1    Bruggenwirth, H.T.2    Nillesen, W.3
  • 16
    • 0028058252 scopus 로고
    • Effects of sex of myotonic dystrophy patients on the unstable triplet repeat in their affected offspring
    • Ashizawa T, Dunne PW, Ward PA, Seltzer WK, Richards CS: Effects of sex of myotonic dystrophy patients on the unstable triplet repeat in their affected offspring. Neurology 1994; 44: 120-122.
    • (1994) Neurology , vol.44 , pp. 120-122
    • Ashizawa, T.1    Dunne, P.W.2    Ward, P.A.3    Seltzer, W.K.4    Richards, C.S.5
  • 17
    • 0029068699 scopus 로고
    • Influence of the sex of the transmitting grandparent in congenital myotonic dystrophy
    • Lopez de Munain A, Cobo AM, Poza JJ et al: Influence of the sex of the transmitting grandparent in congenital myotonic dystrophy. J Med Genet 1995; 32: 689-691.
    • (1995) J Med Genet , vol.32 , pp. 689-691
    • Lopez De Munain, A.1    Cobo, A.M.2    Poza, J.J.3
  • 19
    • 0028275968 scopus 로고
    • Additive influence of maternal and offspring DM-kinase gene CTG repeat lengths in the genesis of congenital myotonic dystrophy
    • Barceló JM, Pluscauskas M, MacKenzie AE, Tsilfidis C, Narang M, Korneluk RG: Additive influence of maternal and offspring DM-kinase gene CTG repeat lengths in the genesis of congenital myotonic dystrophy. Am J Hum Genet 1994; 54: 1124-1125.
    • (1994) Am J Hum Genet , vol.54 , pp. 1124-1125
    • Barceló, J.M.1    Pluscauskas, M.2    Mackenzie, A.E.3    Tsilfidis, C.4    Narang, M.5    Korneluk, R.G.6
  • 21
    • 0026879229 scopus 로고
    • Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy
    • Tsilfidis C, MacKenzie AE, Mettler G, Barcelo J, Korneluk RG: Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy. Nat Genet 1992; 1: 192-195.
    • (1992) Nat Genet , vol.1 , pp. 192-195
    • Tsilfidis, C.1    Mackenzie, A.E.2    Mettler, G.3    Barcelo, J.4    Korneluk, R.G.5
  • 22
    • 0015498217 scopus 로고
    • Early-onset dystrophia myotonica. Evidence supporting a maternal environmental factor
    • Harper PS, Dyken PR: Early-onset dystrophia myotonica. Evidence supporting a maternal environmental factor. Lancet 1972; 2: 53-55.
    • (1972) Lancet , vol.2 , pp. 53-55
    • Harper, P.S.1    Dyken, P.R.2
  • 23
    • 0025794158 scopus 로고
    • Genetic risks for children of women with myotonic dystrophy
    • Koch MC, Grimm T, Harley HG, Harper PS: Genetic risks for children of women with myotonic dystrophy. Am J Hum Genet 1991; 48: 1084-1091.
    • (1991) Am J Hum Genet , vol.48 , pp. 1084-1091
    • Koch, M.C.1    Grimm, T.2    Harley, H.G.3    Harper, P.S.4
  • 24
    • 0031984489 scopus 로고    scopus 로고
    • Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients
    • Martorell L, Monckton DG, Gamez J et al: Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients. Hum Mol Genet 1998; 7: 307-312.
    • (1998) Hum Mol Genet , vol.7 , pp. 307-312
    • Martorell, L.1    Monckton, D.G.2    Gamez, J.3
  • 25
    • 0028873248 scopus 로고
    • Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: Small pool PCR analyses
    • Monckton DG, Wong LJ, Ashizawa T, Caskey CT: Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses. Hum Mol Genet 1995; 4: 1-8.
    • (1995) Hum Mol Genet , vol.4 , pp. 1-8
    • Monckton, D.G.1    Wong, L.J.2    Ashizawa, T.3    Caskey, C.T.4
  • 26
    • 0028890669 scopus 로고
    • Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent
    • Wong LJ, Ashizawa T, Monckton DG, Caskey CT, Richards CS: Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent. Am J Hum Genet 1995; 56: 114-122.
    • (1995) Am J Hum Genet , vol.56 , pp. 114-122
    • Wong, L.J.1    Ashizawa, T.2    Monckton, D.G.3    Caskey, C.T.4    Richards, C.S.5
  • 27
    • 84861112204 scopus 로고    scopus 로고
    • High levels of somatic DNA diversity at the myotonic dystrophy type 1 locus are driven by ultra frequent expansion and contraction mutations
    • Higham CF, Morales F, Cobbold CA, Haydon DT, Monckton DG: High levels of somatic DNA diversity at the myotonic dystrophy type 1 locus are driven by ultra frequent expansion and contraction mutations. Hum Mol Genet 2012; 21: 2450-2463.
    • (2012) Hum Mol Genet , vol.21 , pp. 2450-2463
    • Higham, C.F.1    Morales, F.2    Cobbold, C.A.3    Haydon, D.T.4    Monckton, D.G.5
  • 28
    • 84865088097 scopus 로고    scopus 로고
    • Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity
    • Morales F, Couto JM, Higham CF et al: 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 2012; 21: 3558-3567.
    • (2012) Hum Mol Genet , vol.21 , pp. 3558-3567
    • Morales, F.1    Couto, J.M.2    Higham, C.F.3
  • 29
    • 0028354937 scopus 로고
    • Anticipation in myotonic dystrophy: A parental-sex-related phenomenon
    • Lopez de Munain A, Blanco A, Emparanza JI et al: Anticipation in myotonic dystrophy: a parental-sex-related phenomenon. Neuroepidemiology 1994; 13: 75-78.
    • (1994) Neuroepidemiology , vol.13 , pp. 75-78
    • Lopez De Munain, A.1    Blanco, A.2    Emparanza, J.I.3
  • 30
    • 0034045198 scopus 로고    scopus 로고
    • Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1
    • Martorell L, Monckton DG, Gamez J, Baiget M: Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1. Eur J Hum Genet 2000; 8: 423-430.
    • (2000) Eur J Hum Genet , vol.8 , pp. 423-430
    • Martorell, L.1    Monckton, D.G.2    Gamez, J.3    Baiget, M.4
  • 31
    • 70449547466 scopus 로고
    • Dystrophia myotonica in childhood
    • Vanier TM: Dystrophia myotonica in childhood. BMJ 1960; 2: 1284-1288.
    • (1960) BMJ , vol.2 , pp. 1284-1288
    • Vanier, T.M.1
  • 32
    • 4544376726 scopus 로고    scopus 로고
    • Analysis of unstable triplet repeats using small-pool polymerase chain reaction
    • Gomes-Pereira M, Bidichandani SI, Monckton DG: Analysis of unstable triplet repeats using small-pool polymerase chain reaction. Methods Mol Biol 2004; 277: 61-76.
    • (2004) Methods Mol Biol , vol.277 , pp. 61-76
    • Gomes-Pereira, M.1    Bidichandani, S.I.2    Monckton, D.G.3
  • 33
    • 0842347339 scopus 로고    scopus 로고
    • Germline mutational dynamics in myotonic dystrophy type 1 males: Allele length and age effects
    • Martorell L, Gamez J, Cayuela ML et al: Germline mutational dynamics in myotonic dystrophy type 1 males: allele length and age effects. Neurology 2004; 62: 269-274.
    • (2004) Neurology , vol.62 , pp. 269-274
    • Martorell, L.1    Gamez, J.2    Cayuela, M.L.3
  • 35
    • 77649209124 scopus 로고    scopus 로고
    • The genetic interpretation of area under the ROC curve in genomic profiling
    • Wray NR, Yang J, Goddard ME, Visscher PM: The genetic interpretation of area under the ROC curve in genomic profiling. PLoS Genet 2010; 6: e1000864.
    • (2010) PLoS Genet , vol.6 , pp. e1000864
    • Wray, N.R.1    Yang, J.2    Goddard, M.E.3    Visscher, P.M.4
  • 36
    • 84876476655 scopus 로고    scopus 로고
    • MBNL1 gene variants as modifiers of disease severity in myotonic dystrophy type 1
    • Huin V, Vasseur F, Schraen-Maschke S et al: MBNL1 gene variants as modifiers of disease severity in myotonic dystrophy type 1. J Neurol 2013; 260: 998-1003.
    • (2013) J Neurol , vol.260 , pp. 998-1003
    • Huin, V.1    Vasseur, F.2    Schraen-Maschke, S.3
  • 37
    • 84874787154 scopus 로고    scopus 로고
    • MSH3 polymorphisms and protein levels affect CAG repeat instability in Huntingtons disease mice
    • Tome S, Manley K, Simard JP et al: MSH3 polymorphisms and protein levels affect CAG repeat instability in Huntingtons disease mice. PLoS Genet 2013; 9: e1003280.
    • (2013) PLoS Genet , vol.9 , pp. e1003280
    • Tome, S.1    Manley, K.2    Simard, J.P.3
  • 38
    • 0028355538 scopus 로고
    • Gonosomal mosaicism in myotonic dystrophy patients: Involvement of mitotic events in (CTG)n variation and selection against extreme expansion in sperm
    • Jansen G, Willems P, Coerwinkel M et al: Gonosomal mosaicism in myotonic dystrophy patients: Involvement of mitotic events in (CTG)n variation and selection against extreme expansion in sperm. Am J Hum Genet 1994; 54: 575-585.
    • (1994) Am J Hum Genet , vol.54 , pp. 575-585
    • Jansen, G.1    Willems, P.2    Coerwinkel, M.3
  • 39
    • 0027716510 scopus 로고
    • Somatic instability of CTG repeat in myotonic dystrophy
    • Ashizawa T, Dubel JR, Harati Y: Somatic instability of CTG repeat in myotonic dystrophy. Neurology 1993; 43: 2674-2678.
    • (1993) Neurology , vol.43 , pp. 2674-2678
    • Ashizawa, T.1    Dubel, J.R.2    Harati, Y.3
  • 40
    • 0027257735 scopus 로고
    • Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy
    • Anvret M, Ahlberg G, Grandell U, Hedberg B, Johnson K, Edstrom L: Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy. Hum Mol Genet 1993; 2: 1397-1400.
    • (1993) Hum Mol Genet , vol.2 , pp. 1397-1400
    • Anvret, M.1    Ahlberg, G.2    Grandell, U.3    Hedberg, B.4    Johnson, K.5    Edstrom, L.6
  • 41
    • 0027957470 scopus 로고
    • Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes
    • Thornton CA, Johnson KJ, Moxley RT: Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes. Ann Neurol 1994; 35: 104-107.
    • (1994) Ann Neurol , vol.35 , pp. 104-107
    • Thornton, C.A.1    Johnson, K.J.2    Moxley, R.T.3
  • 42
    • 0029886294 scopus 로고    scopus 로고
    • Small increase in triplet repeat length of cerebellum from patients with myotonic dystrophy
    • Ishii S, Nishio T, Sunohara N et al: Small increase in triplet repeat length of cerebellum from patients with myotonic dystrophy. Hum Genet 1996; 98: 138-140.
    • (1996) Hum Genet , vol.98 , pp. 138-140
    • Ishii, S.1    Nishio, T.2    Sunohara, N.3
  • 43
    • 0028918009 scopus 로고
    • Minimal somatic instability of CTG repeat in congenital myotonic dystrophy
    • Tachi N, Ohya K, Chiba S, Sato T, Kikuchi K: Minimal somatic instability of CTG repeat in congenital myotonic dystrophy. Pediatr Neurol 1995; 12: 81-83.
    • (1995) Pediatr Neurol , vol.12 , pp. 81-83
    • Tachi, N.1    Ohya, K.2    Chiba, S.3    Sato, T.4    Kikuchi, K.5


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