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Volumn 52, Issue 1, 2004, Pages 36-42

Molecular diagnosis and genetic counseling for fragile X mental retardation

Author keywords

Fragile X mental retardation; Genetic counseling; Mutation; Premutation

Indexed keywords

DNA; FRAGILE X MENTAL RETARDATION PROTEIN; MESSENGER RNA; FMR1 PROTEIN, HUMAN; NERVE PROTEIN; RNA BINDING PROTEIN;

EID: 16544377383     PISSN: 00283886     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (11)

References (75)
  • 1
    • 0026345716 scopus 로고
    • Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
    • Fu YH, Kuhl DP, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 1991;67:1047-58.
    • (1991) Cell , vol.67 , pp. 1047-1058
    • Fu, Y.H.1    Kuhl, D.P.2    Pizzuti, A.3    Pieretti, M.4    Sutcliffe, J.S.5    Richards, S.6
  • 2
    • 0028277519 scopus 로고
    • The fragile X syndrome: Implications of molecular genetics for the clinical syndrome
    • Rousseau F. The fragile X syndrome: implications of molecular genetics for the clinical syndrome Eur J Clin Invest 1994;24:1-10.
    • (1994) Eur J Clin Invest , vol.24 , pp. 1-10
    • Rousseau, F.1
  • 3
    • 0000524625 scopus 로고
    • A pedigree of mental defect showing sex-linkage
    • Martin JB, Bell J. A pedigree of mental defect showing sex-linkage. J Neurol Psychiatr 1943;6:154-7.
    • (1943) J Neurol Psychiatr , vol.6 , pp. 154-157
    • Martin, J.B.1    Bell, J.2
  • 5
    • 0001828673 scopus 로고
    • Hereditary mental defect showing the pattern of sex influence
    • Losowsky MS. Hereditary mental defect showing the pattern of sex influence. J Ment Defic Res 1961;5:60-2.
    • (1961) J Ment Defic Res , vol.5 , pp. 60-62
    • Losowsky, M.S.1
  • 8
    • 0014517848 scopus 로고
    • A marker X chromosome
    • Lubs HA. A marker X chromosome. Am J Hum Genet 1969;21:231-44.
    • (1969) Am J Hum Genet , vol.21 , pp. 231-244
    • Lubs, H.A.1
  • 9
    • 0017381277 scopus 로고
    • Fragile sites on human chromosomes: Demonstration of their dependence on the type of tissue culture medium
    • Sutherland GR. Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium. Science 1977;197:265-6.
    • (1977) Science , vol.197 , pp. 265-266
    • Sutherland, G.R.1
  • 10
    • 0016248119 scopus 로고
    • X-linked mental retardation
    • Turner G, Turner B. X-linked mental retardation. J Med Genet 1974;11:109-13.
    • (1974) J Med Genet , vol.11 , pp. 109-113
    • Turner, G.1    Turner, B.2
  • 12
    • 0019131758 scopus 로고
    • Significance of phenotypic and chromosomal abnormalities in X-linked mental retardation (Martin-Bell or Renpenning syndrome)
    • Jennings M, Hall JG, Hoehn H. Significance of phenotypic and chromosomal abnormalities in X-linked mental retardation (Martin-Bell or Renpenning syndrome). Am J Med Genet 1980;7:417-32.
    • (1980) Am J Med Genet , vol.7 , pp. 417-432
    • Jennings, M.1    Hall, J.G.2    Hoehn, H.3
  • 13
    • 0019167260 scopus 로고
    • X-linked mental retardation with macro-orchidism and marker-X chromosomes
    • Martin RH, Lin CC, Mathies BJ, Lowry RB. X-linked mental retardation with macro-orchidism and marker-X chromosomes. Am J Med Genet 1980;7:433-41.
    • (1980) Am J Med Genet , vol.7 , pp. 433-441
    • Martin, R.H.1    Lin, C.C.2    Mathies, B.J.3    Lowry, R.B.4
  • 14
    • 0019654133 scopus 로고
    • Fragile X-linked mental retardation: The Martin-Bell syndrome
    • Richards BW, Sylvester PE, Brooker C. Fragile X-linked mental retardation: the Martin-Bell syndrome. J Ment Defic Res 1981;25:253-6.
    • (1981) J Ment Defic Res , vol.25 , pp. 253-256
    • Richards, B.W.1    Sylvester, P.E.2    Brooker, C.3
  • 15
    • 0034608670 scopus 로고    scopus 로고
    • Physical characteristics of young boys with fragile X syndrome: Reasons for difficulties in making a diagnosis in young males
    • Lachiewicz AM, Dawson VV, Spiridigliozzi UA. Physical characteristics of young boys with fragile X syndrome: reasons for difficulties in making a diagnosis in young males. Am J Med Genet 2000;92:229-36.
    • (2000) Am J Med Genet , vol.92 , pp. 229-236
    • Lachiewicz, A.M.1    Dawson, V.V.2    Spiridigliozzi, U.A.3
  • 16
    • 0002061753 scopus 로고
    • Towards a neuropsychology of fragile X syndrome
    • Hagerman R.J. and Silverman A.C editors. The Johns Hopkins University Press Ltd, London
    • Pennington BF, O'Connor RA, Sudhalter V. Towards a neuropsychology of fragile X syndrome. In: Hagerman R.J. and Silverman A.C editors. Fragile X syndrome: diagnosis, treatment and research. The Johns Hopkins University Press Ltd, London 1991. pp. 173-201.
    • (1991) Fragile X Syndrome: Diagnosis, Treatment and Research , pp. 173-201
    • Pennington, B.F.1    O'Connor, R.A.2    Sudhalter, V.3
  • 17
    • 0026049528 scopus 로고
    • Intelligence and the fra (X) syndrome: A review
    • Curfs LM, Wiegers AM, Fryns JP. Intelligence and the fra (X) syndrome: a review. Genet Couns 1991;2:55-62.
    • (1991) Genet Couns , vol.2 , pp. 55-62
    • Curfs, L.M.1    Wiegers, A.M.2    Fryns, J.P.3
  • 18
    • 0344099490 scopus 로고    scopus 로고
    • The X chromosome and fragile X mental retardation
    • Oostra BA, Willemsen R. The X chromosome and fragile X mental retardation. Cytogenet Genome Res 2002;99:257-64.
    • (2002) Cytogenet Genome Res , vol.99 , pp. 257-264
    • Oostra, B.A.1    Willemsen, R.2
  • 19
    • 0026354010 scopus 로고
    • Selection in blood cells from female carriers of the fragile X syndrome: Inverse correlation between age and proportion of active X chromosomes carrying the full mutation
    • Rousseau F, Heitz D, Oberle I, Mandel JL. Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation. J Med Genet 1991;8:830-6.
    • (1991) J Med Genet , vol.8 , pp. 830-836
    • Rousseau, F.1    Heitz, D.2    Oberle, I.3    Mandel, J.L.4
  • 25
    • 0001966753 scopus 로고
    • Physical and behavioral phenotype
    • Hagerman RJ, Silverman MS, editors. London: Johns Hopkins Press Ltd
    • Hagerman RJ. Physical and behavioral phenotype. In: Hagerman RJ, Silverman MS, editors. Fragile X syndrome. Diagnosis treatment and research. London: Johns Hopkins Press Ltd; 1991. pp. 3-68
    • (1991) Fragile X Syndrome. Diagnosis Treatment and Research , pp. 3-68
    • Hagerman, R.J.1
  • 26
    • 0026649793 scopus 로고
    • Behavioral phenotype of fragile X syndrome: DSM-III-R autistic behavior in male children
    • Reiss AL, Freund L. Behavioral phenotype of fragile X syndrome: DSM-III-R autistic behavior in male children. Am J Med Genet 1992;43:35-46.
    • (1992) Am J Med Genet , vol.43 , pp. 35-46
    • Reiss, A.L.1    Freund, L.2
  • 29
    • 0019916015 scopus 로고
    • Transmission of fragile (X)(827) from normal male(s)
    • Fryns JP, van den Berghe H. Transmission of fragile (X)(827) from normal male(s). Hum Genet 1982;61:262-3.
    • (1982) Hum Genet , vol.61 , pp. 262-263
    • Fryns, J.P.1    Van Den Berghe, H.2
  • 30
    • 0019858520 scopus 로고
    • X-linked mental retardation with fragile X. A pedigree showing transmission by apparently unaffected males and partial expression in female carriers
    • Nielsen KB, Tommerup N, Poulsen H, Mikkelsen M. X-linked mental retardation with fragile X. A pedigree showing transmission by apparently unaffected males and partial expression in female carriers. Hum Genet 1981;59:23-5.
    • (1981) Hum Genet , vol.59 , pp. 23-25
    • Nielsen, K.B.1    Tommerup, N.2    Poulsen, H.3    Mikkelsen, M.4
  • 33
    • 0022666944 scopus 로고
    • Genetic analysis of the fragile-X mental retardation syndrome with two flanking polymorphic DNA-markers
    • USA
    • Oberlé I, Heilig R, Moisan J, Kloepher C, Mattei M, Mattei J, et al. Genetic analysis of the fragile-X mental retardation syndrome with two flanking polymorphic DNA-markers. Proc Natl Acad Sci USA 1986;83:1016-20.
    • (1986) Proc Natl Acad Sci , vol.83 , pp. 1016-1020
    • Oberlé, I.1    Heilig, R.2    Moisan, J.3    Kloepher, C.4    Mattei, M.5    Mattei, J.6
  • 34
    • 0025905795 scopus 로고
    • Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
    • Verkerk AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991;65:905-14.
    • (1991) Cell , vol.65 , pp. 905-914
    • Verkerk, A.J.1    Pieretti, M.2    Sutcliffe, J.S.3    Fu, Y.H.4    Kuhl, D.P.5    Pizzuti, A.6
  • 35
    • 0036591683 scopus 로고    scopus 로고
    • The fragile X premutation: Into the phenotypic fold
    • Hagerman RJ, Hagerman PJ. The fragile X premutation: into the phenotypic fold. Curr Opin Genet Dev 2002;12:278-83
    • (2002) Curr Opin Genet Dev , vol.12 , pp. 278-283
    • Hagerman, R.J.1    Hagerman, P.J.2
  • 36
    • 0026462708 scopus 로고
    • Inheritance of the fragile X syndrome: Size of the fragile X premutation is a major determinant of the transition to full mutation
    • Heitz D, Devys D, Imbert G, Kretz C, Mandel JL. Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation. J Med Genet 1992;29:794-801.
    • (1992) J Med Genet , vol.29 , pp. 794-801
    • Heitz, D.1    Devys, D.2    Imbert, G.3    Kretz, C.4    Mandel, J.L.5
  • 38
    • 0345538689 scopus 로고    scopus 로고
    • A cerebellar tremor/ataxia syndrome among fragile X premutation carriers
    • Hagerman PJ, Greco CM, Hagerman RJ. A cerebellar tremor/ ataxia syndrome among fragile X premutation carriers. Cytogenet Genome Res 2003;100:206-12
    • (2003) Cytogenet Genome Res , vol.100 , pp. 206-212
    • Hagerman, P.J.1    Greco, C.M.2    Hagerman, R.J.3
  • 42
    • 0026781016 scopus 로고
    • A microdeletion of less than 250 kb, including the proximal part of the FMR-1 gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome
    • Wohrle D, Kotzot D, Hirst MC, Manca A, Korn B, Schmidt A, et al. A microdeletion of less than 250 kb, including the proximal part of the FMR-1 gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome. Am J Hum Genet 1992;51:299-306.
    • (1992) Am J Hum Genet , vol.51 , pp. 299-306
    • Wohrle, D.1    Kotzot, D.2    Hirst, M.C.3    Manca, A.4    Korn, B.5    Schmidt, A.6
  • 43
    • 0027489281 scopus 로고
    • An extensive de novo deletion removing FMRI in a patient with mental retardation and the fragile X syndrome phenotype
    • Tarleton J, Richie R, Schwartz C, Rao K, Aylsworth AS, Lachiewicz A. An extensive de novo deletion removing FMRI in a patient with mental retardation and the fragile X syndrome phenotype. Hum Mol Genet 1993;2:1973-4.
    • (1993) Hum Mol Genet , vol.2 , pp. 1973-1974
    • Tarleton, J.1    Richie, R.2    Schwartz, C.3    Rao, K.4    Aylsworth, A.S.5    Lachiewicz, A.6
  • 45
    • 0029153893 scopus 로고
    • Spontaneous deletion in the FMRI gene in a patient with fragile X syndrome and cherubism
    • Quan F, Grompe M, Jakobs P, Popovich BW. Spontaneous deletion in the FMRI gene in a patient with fragile X syndrome and cherubism. Hum Mol Genet 1995;4:1681-4.
    • (1995) Hum Mol Genet , vol.4 , pp. 1681-1684
    • Quan, F.1    Grompe, M.2    Jakobs, P.3    Popovich, B.W.4
  • 49
    • 0030580987 scopus 로고    scopus 로고
    • Significance of linkage disequilibrium between the fragile X locus and its flanking markers
    • Chiurazzi P, Macpherson J, Sherman S, Neri G. Significance of linkage disequilibrium between the fragile X locus and its flanking markers. Am J Med Genet 1996;64:203-8.
    • (1996) Am J Med Genet , vol.64 , pp. 203-208
    • Chiurazzi, P.1    Macpherson, J.2    Sherman, S.3    Neri, G.4
  • 50
    • 0027947475 scopus 로고
    • The fragile X syndrome in Finland: Demonstration of a founder effect by analysis of microsatellite haplotypes
    • Haataja R, Vaisanen ML, Li M, Ryynanen M, Leisti J. The fragile X syndrome in Finland: demonstration of a founder effect by analysis of microsatellite haplotypes. Hum Genet 1994;94:479-83.
    • (1994) Hum Genet , vol.94 , pp. 479-483
    • Haataja, R.1    Vaisanen, M.L.2    Li, M.3    Ryynanen, M.4    Leisti, J.5
  • 51
    • 0027176361 scopus 로고
    • The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation
    • Devys D, Lutz Y, Rouyer N, Bellocq JP, Mandel JL. The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nat Genet 1993;4:335-40.
    • (1993) Nat Genet , vol.4 , pp. 335-340
    • Devys, D.1    Lutz, Y.2    Rouyer, N.3    Bellocq, J.P.4    Mandel, J.L.5
  • 52
    • 0036766552 scopus 로고    scopus 로고
    • New insights into the function of fragile X mental retardation protein. Hotspot
    • Mittal B, Pandey UB. New insights into the function of fragile X mental retardation protein. Hotspot. Clin Genet 2002;62:191-5.
    • (2002) Clin Genet , vol.62 , pp. 191-195
    • Mittal, B.1    Pandey, U.B.2
  • 53
    • 0035746538 scopus 로고    scopus 로고
    • FMRI and the fragile X syndrome: Human genome epidemiology review
    • Crawford DC, Acuna JM, Sherman SL. FMRI and the fragile X syndrome: human genome epidemiology review. Genet Med 2001;3:359-71.
    • (2001) Genet Med , vol.3 , pp. 359-371
    • Crawford, D.C.1    Acuna, J.M.2    Sherman, S.L.3
  • 54
    • 0035184510 scopus 로고    scopus 로고
    • Expansion mutation frequency and CGG/GCC repeat polymorphism in FMR1 and FMR2 genes in an Indian population
    • Sharma D, Gupta M, Thelma BK. Expansion mutation frequency and CGG/GCC repeat polymorphism in FMR1 and FMR2 genes in an Indian population. Genet Epidemiol 2001;20:129-44.
    • (2001) Genet Epidemiol , vol.20 , pp. 129-144
    • Sharma, D.1    Gupta, M.2    Thelma, B.K.3
  • 56
    • 0036912444 scopus 로고    scopus 로고
    • Molecular screening of FRAXA and FRAXE in Indian patients with unexplained mental retardation
    • Pandey UB, Phadke S, Mittel B. Molecular screening of FRAXA and FRAXE in Indian patients with unexplained mental retardation. Genet Test 2002;6:335-9
    • (2002) Genet Test , vol.6 , pp. 335-339
    • Pandey, U.B.1    Phadke, S.2    Mittel, B.3
  • 57
    • 0032112677 scopus 로고    scopus 로고
    • Prevalence of fragile X(A) syndrome in mentally retarded children at a genetics referral centre in Delhi, India
    • Jain U, Verma IC, Kapoor AK. Prevalence of fragile X(A) syndrome in mentally retarded children at a genetics referral centre in Delhi, India. Ind J Med Res 1998;108:12-6.
    • (1998) Ind J Med Res , vol.108 , pp. 12-16
    • Jain, U.1    Verma, I.C.2    Kapoor, A.K.3
  • 59
    • 0022595514 scopus 로고
    • Population incidence and segregation ratios in the Martin-Bell syndrome
    • Webb TP, Bundey SE, Thake AI, Todd J. Population incidence and segregation ratios in the Martin-Bell syndrome. Am J Med Genet 1986;23:573-80
    • (1986) Am J Med Genet , vol.23 , pp. 573-580
    • Webb, T.P.1    Bundey, S.E.2    Thake, A.I.3    Todd, J.4
  • 62
    • 0020628743 scopus 로고
    • A cytogenetic study of a population of mentally retarded males with special reference to the marker (X) syndrome
    • Jacobs PA, Mayer M, Matsuura J, Rhoads F, Yee SC. A cytogenetic study of a population of mentally retarded males with special reference to the marker (X) syndrome. Hum Genet. 1983;63:139-48.
    • (1983) Hum Genet , vol.63 , pp. 139-148
    • Jacobs, P.A.1    Mayer, M.2    Matsuura, J.3    Rhoads, F.4    Yee, S.C.5
  • 63
    • 0023759213 scopus 로고
    • A cytogenetic study of mentally retarded school children in Taiwan with special reference to the fragile X chromosome
    • Li SY, Tsai CC, Chou MY, Lin JK. A cytogenetic study of mentally retarded school children in Taiwan with special reference to the fragile X chromosome. Hum Genet 1988;79:292-6.
    • (1988) Hum Genet , vol.79 , pp. 292-296
    • Li, S.Y.1    Tsai, C.C.2    Chou, M.Y.3    Lin, J.K.4
  • 65
    • 0029996847 scopus 로고    scopus 로고
    • Molecular and cytogenetic analysis of the fragile X syndrome in a series of 453 mentally retarded subjects: A study of 87 families
    • Perroni L, Grasso M, Argusti A, Lo Nigro C, Croci GF, Zelante L, et al. Molecular and cytogenetic analysis of the fragile X syndrome in a series of 453 mentally retarded subjects: a study of 87 families. Am J Med Genet 1996;64:176-80.
    • (1996) Am J Med Genet , vol.64 , pp. 176-180
    • Perroni, L.1    Grasso, M.2    Argusti, A.3    Lo Nigro, C.4    Croci, G.F.5    Zelante, L.6
  • 66
    • 0028201020 scopus 로고
    • DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for reversal of mutation in the FMR-1 gene
    • van den Ouweland AM, de Vries BB, Bakker PL, Deelen WH, de Graaff E, et al. DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for reversal of mutation in the FMR-1 gene Am J Med Genet 1994;51:482-5.
    • (1994) Am J Med Genet , vol.51 , pp. 482-485
    • Van Den Ouweland, A.M.1    De Vries, B.B.2    Bakker, P.L.3    Deelen, W.H.4    De Graaff, E.5
  • 67
    • 0028237298 scopus 로고
    • Comparision between the Cytogenetic test for fragile X and the molecular analysis in Japanese mentally retarded individuals
    • Hofstee Y, Arinami T, Hamaguchi H. Comparision between the Cytogenetic test for fragile X and the molecular analysis in Japanese mentally retarded individuals Am J Med Genet. 1994:51;466-70.
    • (1994) Am J Med Genet , vol.51 , pp. 466-470
    • Hofstee, Y.1    Arinami, T.2    Hamaguchi, H.3
  • 68
    • 0028892002 scopus 로고
    • Non-radioactive DNA diagnosis for the fragile X syndrome in mentally retarded Japanese males
    • Nanba E, Kohno Y, Matsuda A, Yano M, Sato C, Hashimoto K, et al. Non-radioactive DNA diagnosis for the fragile X syndrome in mentally retarded Japanese males. Brain Devel 1995;17:317-21.
    • (1995) Brain Devel , vol.17 , pp. 317-321
    • Nanba, E.1    Kohno, Y.2    Matsuda, A.3    Yano, M.4    Sato, C.5    Hashimoto, K.6
  • 69
    • 0033612245 scopus 로고    scopus 로고
    • Trinucleotide CGG repeat in the FMRI gene in Chinese mentally retarded patients
    • Pang CP, Poon PM, Chen QL, Lai KY, Yin CH, Zhao Z, et al. Trinucleotide CGG repeat in the FMRI gene in Chinese mentally retarded patients. Am J Med Genet 1999;84:179-83.
    • (1999) Am J Med Genet , vol.84 , pp. 179-183
    • Pang, C.P.1    Poon, P.M.2    Chen, Q.L.3    Lai, K.Y.4    Yin, C.H.5    Zhao, Z.6
  • 71
    • 0027241248 scopus 로고
    • Guidelines for the diagnosis of fragile X syndrome
    • National Fragile X Foundation
    • Oostra BA, Jacky PB, Brown WT, Rousseau F. Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation. J Med Genet 1993;30:410-3.
    • (1993) J Med Genet , vol.30 , pp. 410-413
    • Oostra, B.A.1    Jacky, P.B.2    Brown, W.T.3    Rousseau, F.4
  • 72
    • 84942947953 scopus 로고
    • Advances in molecular analysis of fragile X syndrome
    • Warren ST, Nelson DL. Advances in molecular analysis of fragile X syndrome. JAMA 1994;271:536-42.
    • (1994) JAMA , vol.271 , pp. 536-542
    • Warren, S.T.1    Nelson, D.L.2
  • 74
    • 0028838290 scopus 로고
    • Dissemination of genetic risk information to relatives in the fragile X syndrome: Guidelines for genetic counselors
    • McConkie-Rosell A, Robinson H, Wake S, Staley LW, Heller K, Cronister A. Dissemination of genetic risk information to relatives in the fragile X syndrome: guidelines for genetic counselors Am J Med Genet 1995;59;426-30.
    • (1995) Am J Med Genet , vol.59 , pp. 426-430
    • McConkie-Rosell, A.1    Robinson, H.2    Wake, S.3    Staley, L.W.4    Heller, K.5    Cronister, A.6


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