Genetic prenatal and preimplantation diagnosis of trinucleotide repeat disorders

References

• Weatheral DL. The new genetics and clinical practice. Oxford University Press, Oxford, UK (1991).
   Google Scholar
• Cummings CJ, Zoghbi HY. Trinucleotiderepeats: mechanisms and pathophysiology. Ann. Rev Genom. Human. Genet.1, 281–328 (2000).
   PubMed Web of Science ®Google Scholar
• ••Excellent summary of the currentunderstanding of trinucleotide repeat orders.
   Google Scholar
• Holmes SE, O'Hearn E, Rosenblatt A et alA repeat expansion in the gene encoding junctophilin-3 is associated with Huntington's disease-like 2. Nat. Genet. 29(4),377-378 (2001).
   Google Scholar
• Nakamura K, Jeong SY, Uchihara T et a/.SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum Mal Genet 10(14),1441–1448 (2001).
   Google Scholar
• Massari A, Novelli G, Colosimo A etal. Non-invasive early prenatal molecular diagnosis using retrieved transcervical trophoblast cells. Hum Genet. 97(2), 150–155 (1996).
   Google Scholar
• Amicucci P, Gennarelli M, Novelli G,Dallapiccola B. Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma. Clin. Chem. 46(2), 301–302 (2000).
   Google Scholar
• Edwards RG. Maturation in vitro of human ovarian oocytes. Lancet ii, 926–929 (1965).
   Google Scholar
• Handyside AH, Kontogianni IEH, HardyK, Winston RM, Hughes MR. Birth of a normal girl after in vitro fertilisation and preimplantation diagnostic testing for cystic fibrosis. NEngif Med. 372 (13), 905–909 (1992).
   Google Scholar
• McKusick VA. Mendelian Inheritance in Mm. Catalogs of Human Genes and Genetic Disorders. (12th edition). Johns Hopkins University Press, Baltimore, USA (1998).
   Google Scholar
• Dean NL, Phillips SJ, Buckett WM, Biljan MM, Tan SL. Impact of reducing the number of embryos transferred from three to two in women under the age of 35 who produced three or more high quality embryos. Fetid. Stern. 74(4), 820–823 (2000).
   Google Scholar
• Dean NL, Tan SL, Ao A. The development of preimplantation genetic diagnosis for myotonic dystrophy using multiplex fluorescent polymerase chain reaction and its clinical application. Mal Hum. Reprod. 7(9), 895–901 (2001).
   Google Scholar
• Sermon K, Seneca S, De Rycke M et alPGD in the lab for triplet repeat diseases - myotonic dystrophy, Huntington's disease and Fragile-X syndrome. Mal Cell Endocrinol 183\(Suppl. 1), S77-85 (2001).
   Google Scholar
• ••5-year experience of PGD for FRAXA,HD and DM1.
   Google Scholar
• Nance MA, Myers RII. Juvenile onset Huntington's disease - clinical and research perspectives. Ment. Retard. Dev. Disabil Res. Rev 7(3), 153–157 (2001).
   Google Scholar
• Hayden MR, Hewitt J, Kastelein JJ etal First-trimester prenatal diagnosis for Huntington's disease with DNA probes. Lancet1(8545), 1284–1285(1987).
   Google Scholar
• Quarrell OW Meredith AL, Tyler A,Youngman S, Upadhyaya M, Harper PS. Exclusion testing for Huntington's disease in pregnancy with a closely linked DNA marker. Lancet1(8545), 1281–1283 (1987).
   Google Scholar
• Rosser E, Huson SM, Norbury G. Prenatal, presymptomatic and diagnostic testing with direct mutation analysis in Huntington's disease. Lancet343(8895), 487–488 (1994).
   Google Scholar
• Fahy M, Robbins C, Bloch M, Turnell RW,Hayden MR. Different options for prenatal testing for Huntingtonis disease using DNA probes. Med. Genet. 26(6), 353-357(1989).
   Google Scholar
• Sermon K, Goossens V, Seneca S eta].Preimplantation diagnosis for Huntington's disease (HD): clinical application and analysis of the HD expansion in affected embryos. Prenat. Diagn. 18 (13), 1427–1436 (1998).
   Google Scholar
• Schulman JD, Black SH, Handyside AH,Nance WE. Preimplantation genetic testing for Huntington's disease and certain other dominantly inherited diseases. Clin. Genet. 49(2), 57–58 (1996).
   Google Scholar
• Yapijakis C, Kapaki E, Boussiou M, Vassilopoulos D, Papageorgiou C. Prenatal diagnosis of X-linked spinal and bulbar muscular atrophy in a Greek family. Prenat. Diagn. 16(3), 262–265 (1996).
   Google Scholar
• Georgiou I, Sermon K, Lissens W et alPreimplantation genetic diagnosis for spinal and bulbar muscular atrophy (SBMA). Hum. Genet. 108(6), 494–498 (2001).
   Google Scholar
• Sequeiros J, Maciel P, Taborda F et alPrenatal diagnosis of Machado-Joseph disease by direct mutation analysis. Prenat. Diagn. 18(6), 611–617(1998).
   Google Scholar
• •Good discussion of the controversial issues in prenatal diagnosis for late onset genetic disorders.
   Google Scholar
• Grattan-Smith PJ, Healey S, Grigg JR,Christodoulou J. Spinocerebellar ataxia Type 7: a distinctive form of autosomal dominant cerebellar ataxia with retinopathy and marked genetic anticipation. j Pediatr. Child Health 37(1), 81–84 (2001).
   Google Scholar
• Magee AC, Hughes AE, Kidd A etalReproductive counselling for women with myotonic dystrophy. j Med. Genet. 39(3), e15 (2002).
   Google Scholar
• Brook J, McCurrach M, Harley H etal.Molecular basis of myotonic dystrophy: expansion of trinucleotide (CTG) repeat at 3' end of a transcript encoding a protein kinase family member. Ce//68(4), 799–808 (1992).
   Google Scholar
• Mahadevan M, Tsilfidis C, Sabourin L etalMyotonic dystrophy: an unstable CTG repeat in the 3- untranslated region of the gene. Science255(5049), 1253–1255 (1992).
   Google Scholar
• Insley J, Bird GW, Harper PS, Pearce GW.Letter: Prenatal prediction of myotonicdystrophy. Lancet1(7963), 806 (1976).
   Google Scholar
• Greiner J, Spengler DH, Kruger J,Tariverdian G. The secretor locus as a marker for prenatal prediction of myotonic dystrophy (DM). Hum. Genet. 78(4), 330–332 (1988).
   Google Scholar
• Lunt PW, Meredith AL, Harper PS. First-trimester prediction in fetus at risk for myotonic dystrophy. Lancet 2 (8502), 350–351 (1986).
   Google Scholar
• Lavedan C, Hofmann H, Shelbourne Petal Prenatal diagnosis of myotonic dystrophy using closely linked flanking markers.j Med Genet. 28(2), 89–91 (1991).
   Google Scholar
• Mulley JC, Gedeon AK, White SJ, Haan EA, Richards RI. Predictive diagnosis of myotonic dystrophy with flanking microsatellite markers. j Med. Genet 28(7), 448–452 (1991).
   Google Scholar
• Smeets HJ, Nillesen WM, Los F etalPrenatal diagnosis of myotonic dystrophy by direct mutation analysis. Lancet 340(8813), 237–238 (1992).33Petronis A, Heng IIf I, Tatuch Y etal Direct detection of expanded trinucleotide repeats using PCR and DNA hybridization techniques. Am.j Hum Genet. 67(1), 85-91(1996).
   Google Scholar
• Cheng S, Barcelo JM, Korneluk RG.Characterization of large CTG repeat expansions in myotonic dystrophy alleles using PCR. Hum. .11/lutat. 7(4), 304–310 (1996).
   Google Scholar
• Sermon K, Lissens W, Joris H etal Clinicalapplication of preimplantation diagnosisfor myotonic dystrophy. Prenat. Diagn.17(10), 925–932 (1997).
   Google Scholar
• Sermon K, De Vos A, Van de Velde H etalFluorescent PCR and automated fragment analysis for the clinical application of preimplantation genetic diagnosis of myotonic dystrophy (Steinerts disease) Mal Hum. Reprod 4(8), 791–796 (1998).
   Google Scholar
• Prouty LA, Rogers RC, Stevenson RE et al.Fragile X syndrome: growth, development and intellectual function. Am. j Hum. Genet. 30(1-2), 123–142 (1988).
   Google Scholar
• Verkerk AJMH, Pieretti M, Sutcliffe JS etal Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Ce1165(5), 905–914 (1991).
   Google Scholar
• Oberle I, Rousseau F, Heitz D. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 252 (5010), 1097–1102 (1991).
   Google Scholar
• Sutcliffe JS, Nelson DL, Zhang F etal DNA methylation represses FMR-1 transcription in fragile X syndrome Hum. Mol. Genet. 1(6), 397–400 (1992).
   Google Scholar
• Jenkins EC, Brown WT, Brooks J, DuncanCJ, Rudelli RD, Wisniewski HM. Experience with prenatal fragile X detection. Am. Med Genet 17(1), 215–239 (1984).
   Google Scholar
• Forster-Gibson CJ, Mulligan LM, Simpson NE, White BN, Holden JJ. An assessment of the use of flanking DNA markers for fra(X) syndrome carrier detection and prenatal diagnosis Am. j Med. Genet. 23 (1–2), 665–683 (1986).
   Google Scholar
• Tarleton J, Wong S, Heitz D, Schwartz C.Difficult diagnosis of the fragile X syndrome made possible by direct detection of DNA mutations. .1. Med. Genet. 29(10), 726–729 (1992).
   Google Scholar
• Rousseau F, Heitz D, Biancalana V etal Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N. Engl. Med 325(24), 1673–1681 (1991).
   Google Scholar
• Sutherland GR, Gedeon A, Kornman Letal Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence. N Engl. I Med. 325(24), 1720–1722 (1991).
   Google Scholar
• Brown WT, Houck GE Jr, Jeziorowska Aetal Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test. JA/V/A 270(13), 1569–1575 (1993).
   Google Scholar
• Dobkin C, Ding X, Li Y etal Accelerated prenatal diagnosis of Fragile X syndrome by polymerase chain reaction restriction fragment detection. Am. j Med. Genet 83(40), 338–342 (1999).
   Google Scholar
• Dreesen JCFM, Geraedts JPM, DumoulinJCM, Evers JLH, Pieters MHEC. R546 (DX5548) genotyping of reproductive cells: approaching preimplantation testing of the fragile-X syndrome. Hum. Genet 96(3), 323–329 (1995).
   Google Scholar
• Reyniers E, Vits L, De Boulle L etal The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm. Nat. Genet. 4(2), 143–146 (1993).
   Google Scholar
• Apessos A, Abou-Sleiman PM, Harper JC, Delhanty JD. Preimplantation genetic diagnosis of the fragile X syndrome by use of linked polymorphic markers. Prenat. Diagn. 21(6), 504–511(2001).
   Google Scholar
• Sermon K, Seneca S, Vanderfaeillie A etal Preimplantation diagnosis for fragile X syndrome based on the detection of the non-expanded paternal and maternal CGG. Prenat. Diagn. 19(13), 1223–1230 (1999).
   Google Scholar
• Maher H, Iber J, Willemsem R etalCharacterization of the full fragile X syndrome mutation in fetal gametes. Nat. Genet. 15(2), 165–169 (1997).
   Google Scholar
• Campuzano V, Montermini L, Moho MDetal Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271(5254), 1423–1427(1996).
   PubMed Web of Science ®Google Scholar
• Wallis J, Shaw J, Wilkes D etal Prenataldiagnosis of Friedreich ataxia. Am. j Med. Genet. 34(3), 458–461 (1989).
   Google Scholar
• Pandolfo M, Montermini M. Prenatal diagnosis of Friedreichs ataxia. Prenat. Diagn. 18(8), 831–833 (1998).
   Google Scholar
• Knight SJ, Flannery AV, Hirst MC etalTrinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell 74(1), 127–134 (1993).
   Google Scholar
• Biancalana V, Tame L, Bouix J-C etalExpansion and methylation status at FRAXE can be detected on EcoRI blots used for FRAXA diagnosis: analysis of four FRAXE families with mild mental retardation in males. Am j Hum. Genet. 59(4), 847–854 (1996).
   Google Scholar
• Carbonell P, Lopez I, Gabarron J eta]. FRAXE mutation analysis in three Spanish families. Arnj Med. Genet. 64(2), 434–440 (1996).
   Google Scholar
• Hagerman RJ, Hull CE, Safanda JF et alHighfunctioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression. Am jMJ Genet. 51(4), 298–308 (1994).
   Google Scholar
• Hecimovic S, Barasic I, Muller A, PetkovicI, Ligutic I, Pavelic K. Expand long PCR for fragile X mutation detection. Clin. Genet. 52(3), 147–154 (1997).
   Google Scholar
• Allingham-Hawkins DJ, Babul-Hirji R,Chitayat D etal Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study-preliminary data. J. Med. Genet. 83(4), 322–325 (1999).
   Google Scholar
• Lewis CM, Pinel T, Whittaker JC et al Controlling misdiagnosis errors in preimplantation genetic diagnosis: a comprehensive model encompassing extrinsic and intrinsic sources of error. Hum. Repmd. 16(1), 43–50 (2001).
   Google Scholar
• Pergament E. Preimplantation diagnosis: a patient perspective. Prenat. Diagn. 11(8), 493–500 (1991).
   PubMed Web of Science ®Google Scholar
• Willemsen R, Oosterwijk JC, Los FJ,Galjaard H, Oostra BA. Prenatal diagnosis of fragile X syndrome. Lancet 348(9032), 967–968 (1996).
   Google Scholar
• Jenkins EC, Wen GY, Kim KS, Zhong Netal Prenatal fragile X detection using cytoplasmic and nuclear-specific monoclonal antibodies. Am. J. Med. Genet. 83(4), 342–346 (1999).
   Google Scholar
• Gardner DK, Vella P, Lane M, Wagley L, Schlenker T, Schoolcraft WB. Culture and transfer of human blastocysts increases implantation rates and reduces the need for multiple embryo transfers. Fertil 69 (1), 84–88 (1998).
   Google Scholar
• Andrew SE, Goldberg YP, Kremer B etalThe relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nat. Genet. 4(4), 398–403 (1993).
   Google Scholar
• The Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's Disease chromosomes. Cell 72(6), 971–983 (1993).
   Google Scholar
• Duyao M, Ambrose C, Myers R etal Trinucleotide repeat length instability and age of onset in Huntington's disease. Nat. Genet. 4(4), 387–392 (1993).
   Google Scholar
• Chung M-Y, Ranum LPW, Duvick L, Sevadio A, Zoghbi HY, Orr HR. Analysis of the CAG repeat expansion in spinocerebellar ataxia Type 1: evidence for a possible mechanism predisposing to instability. Nat. Genet. 5(3), 254–258 (1993).
   Google Scholar
• Orr HT, Chung M-Y, Banfi S etalExpansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia Type 1. Nat. Genet. 4(3), 221–226 (1993).
   Google Scholar
• Imbert G, Sandou F, Yvert G etal Cloning ofthe gene for spinocerebellar ataxia Type 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats and high instability. Nat. Genet. 14(3), 285–291 (1996).
   Google Scholar
• NIA S-M, Nechiporuk A, Nechiporuk Tetal Identification of the SCA2 gene: moderate expansion of a normally biallelic trinucleotide repeat. Nat. Genet. 14(3), 269–276 (1996).
   Google Scholar
• Kawaguchi Y, Okamoto T, Taniwaki M etalCAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat. Genet. 8(3), 221–228 (1994).
   Google Scholar
• Maciel P, Gaspar C, DeStefano AL etalCorrelation between CAG repeat length and clinical features in Machado-Joseph disease.Am jHurn Genet. 57(1), 54–61(1995).
   Google Scholar
• Jodice C, Mantuano E, Veneziano L etal Episodic ataxia Type 2 (EA2) and spinocerebellar ataxia 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. Hum. Mal. Genet. 6(11), 1973–1978 (1997).
   Google Scholar
• Zhuchenko 0, Bailey J, Bonnen P etalAutosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the oclA-voltage-dependent calcium channel. Nat. Genet. 15(1), 62–69 (1997).
   Google Scholar
• David G, Abbas N, Stevanin G etalCloning of the SCA7 gene reveals a highly stable CAG unstable expansion. Nat. Genet. 17(1), 65–70 (1997).
   Google Scholar
• Benton CS, de Silva R, Rutledge SL etalMolecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype. Neurology51 (4), 1081–1086 (1998).
   Google Scholar
• Koide R, Ikeuchi T, Onodera 0 etalUnstable expansion of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA). Nat. Genet. 6(1), 9–13 (1994).
   Google Scholar
• La Spada AR, Wilson EM, Lubahn DB,Harding AE, Fischbeck KH. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352(6330), 77–79 (1991).
   PubMed Web of Science ®Google Scholar
• La Spada AR, Roling DB, Harding AEetal Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbarmuscular atrophy. Nat. Genet. 2(4), 301–304 (1992).
   PubMed Web of Science ®Google Scholar
• Fu YH, Pizzuti A, Fenwick RG Jr etal An unstable triplet repeat in a gene related tomyotonic muscular dystrophy. Science255(5049), 1256–1258(1992).
   PubMed Web of Science ®Google Scholar
• Koob MD, Moseley ML, Schut LJ etal An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat. Genet. 21(4), 379–384 (1999).
   Google Scholar
• Ranum LPW, Moseley ML, Leppert MFetal Massive CTG expansions and deletions may reduce penetrance of spinocerebellar ataxia Type 8. Am. J. Hum. Genet. 65 (Suppl.), A466 (1999).
   Google Scholar
• Holmes SE, O'Hearn EE, McInnes MG etal Expansion of a novel CAG trinucleotide repeat in the 5' region of PP2R2B is associated with SCA12. Nat. Genet. 23(4), 391–392 (1999).
   Google Scholar
• Fujigasaki H, Verma IC, Camuzat A etal SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family. Ann. Neural. 49(1), 117–121 (2001).
   Google Scholar
• Fu YH, Kuhl DP, Pizzuti A etal Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67(6), 1047–1058 (1991).
   PubMed Web of Science ®Google Scholar
• Yu S, Mulley J, Loesch D etal Fragile Xsyndrome: unique genetics of the heritable unstable element. Amj Hum Genet. 50(5), 968–980 (1992).
   Google Scholar
• Sutherland GR, Baker E. Characterisation of a new rare fragile site easily confused with the fragile X. Hum. Mal Genet. 1(2), 111–113 (1992).
   Google Scholar
• Montermini L, Andermann E, Richter Aetal The Friedreich ataxia FAA triplet repeat: premutation and normal alleles. Hum. Mal. Genet. 6(8), 1261–1266 (1997).
   Google Scholar