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Volumn 58, Issue 5, 2010, Pages 331-342

Genetics of mental retardation;Retards mentaux d'origine génétique

Author keywords

Chromosome; Gene; Genetic counseling; Mental retardation; Mutation

Indexed keywords

ARTICLE; CHROMOSOME DELETION; CLINICAL EXAMINATION; COMPARATIVE GENOMIC HYBRIDIZATION; CONSULTATION; CYTOGENETICS; DIAGNOSTIC PROCEDURE; FAMILY; FRAGILE X SYNDROME; GENETIC COUNSELING; HOMOCYSTINURIA; HUMAN; KARYOTYPE; MENTAL DEFICIENCY; METABOLIC DISORDER; MYOTONIC DYSTROPHY; PATHOGENESIS; PATIENT CARE; PROGNOSIS; RECURRENCE RISK; RETT SYNDROME; SANFILIPPO SYNDROME; SMITH MAGENIS SYNDROME; WILLIAMS BEUREN SYNDROME;

EID: 77957294852     PISSN: 03698114     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.patbio.2009.09.013     Document Type: Article
Times cited : (8)

References (41)
  • 1
    • 77957316646 scopus 로고
    • American Association on Mental Retardation. DSM-IV-R, Diagnosis and Statistical Manual of Mental Disorders. 4th revised edition. Washington, DC
    • American Association on Mental Retardation. DSM-IV-R, Diagnosis and Statistical Manual of Mental Disorders. 4th revised edition. Washington, DC; 1994.
    • (1994)
  • 3
    • 8044233695 scopus 로고    scopus 로고
    • The prevalence of mental retardation: a critical review of recent literature
    • Roeleveld N., Zielhuis G.A., Gabreels F. The prevalence of mental retardation: a critical review of recent literature. Dev Med Child Neurol 1997, 39:125-132.
    • (1997) Dev Med Child Neurol , vol.39 , pp. 125-132
    • Roeleveld, N.1    Zielhuis, G.A.2    Gabreels, F.3
  • 4
    • 0031917443 scopus 로고    scopus 로고
    • Mental retardation in Norway: prevalence and sub-classification in a cohort of 30,037 children born between 1980 and 1985
    • Stromme P., Valvatne K. Mental retardation in Norway: prevalence and sub-classification in a cohort of 30,037 children born between 1980 and 1985. Acta Paediatr 1998, 87:291-296.
    • (1998) Acta Paediatr , vol.87 , pp. 291-296
    • Stromme, P.1    Valvatne, K.2
  • 6
    • 0030941729 scopus 로고    scopus 로고
    • Reported biomedical causes and associated medical conditions for mental retardation among 10-year-old children, metropolitan Atlanta, 1985 to 1987
    • Yeargin-Allsopp M., Murphy C.C., Cordero J.F., Decouflé P., Hollowell J.G. Reported biomedical causes and associated medical conditions for mental retardation among 10-year-old children, metropolitan Atlanta, 1985 to 1987. Dev Med Child Neurol 1997, 39:142-149.
    • (1997) Dev Med Child Neurol , vol.39 , pp. 142-149
    • Yeargin-Allsopp, M.1    Murphy, C.C.2    Cordero, J.F.3    Decouflé, P.4    Hollowell, J.G.5
  • 9
    • 0033552424 scopus 로고    scopus 로고
    • Subtle chromosomal rearrangements in children with unexplained mental retardation
    • Knight S.J., Regan R., Nicod A., Horsley S.W., Kearney L., Homfray T., et al. Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 1999, 354:1676-1681.
    • (1999) Lancet , vol.354 , pp. 1676-1681
    • Knight, S.J.1    Regan, R.2    Nicod, A.3    Horsley, S.W.4    Kearney, L.5    Homfray, T.6
  • 10
    • 58149153113 scopus 로고    scopus 로고
    • Clinical utility of array CGH for the detection of anomalies
    • Edelmann L., Hirschhorn K. Clinical utility of array CGH for the detection of anomalies. Ann N Y Acad Sci 2009, 1151:157-166.
    • (2009) Ann N Y Acad Sci , vol.1151 , pp. 157-166
    • Edelmann, L.1    Hirschhorn, K.2
  • 11
    • 4444279885 scopus 로고    scopus 로고
    • Five years of molecular diagnosis of Fragile X syndrome (1997-2001): a collaborative study reporting 95 % of the activity in France
    • Biancalana V., Beldjord C., Taillandier A., Szpiro-Tapia S., Cusin V., Gerson F., et al. Five years of molecular diagnosis of Fragile X syndrome (1997-2001): a collaborative study reporting 95 % of the activity in France. Am J Med Genet A 2004, 129A:218-224.
    • (2004) Am J Med Genet A , vol.129 A , pp. 218-224
    • Biancalana, V.1    Beldjord, C.2    Taillandier, A.3    Szpiro-Tapia, S.4    Cusin, V.5    Gerson, F.6
  • 12
    • 0014517848 scopus 로고
    • A marker X chromosome
    • Lubs H.A. A marker X chromosome. Am J Hum Genet 1969, 21:231-244.
    • (1969) Am J Hum Genet , vol.21 , pp. 231-244
    • Lubs, H.A.1
  • 13
    • 0026339303 scopus 로고
    • Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
    • Oberlé I., Rousseau F., Heitz D., Kretz C., Devys D., Hanauer A., et al. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 1991, 252:1097-1102.
    • (1991) Science , vol.252 , pp. 1097-1102
    • Oberlé, I.1    Rousseau, F.2    Heitz, D.3    Kretz, C.4    Devys, D.5    Hanauer, A.6
  • 14
    • 0026347628 scopus 로고
    • Fragile X genotype characterized by an instable region of DNA
    • Yu S., Pritchard M., Kremer E., Lynch M., Nancarrow J., Baker E., et al. Fragile X genotype characterized by an instable region of DNA. Science 1991, 252:1179-1181.
    • (1991) Science , vol.252 , pp. 1179-1181
    • Yu, S.1    Pritchard, M.2    Kremer, E.3    Lynch, M.4    Nancarrow, J.5    Baker, E.6
  • 15
    • 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 A.J., Pieretti M., Sutcliffe J.S., Fu Y.H., Kuhl D.P., 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, 65:905-914.
    • (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
  • 16
    • 0026345716 scopus 로고
    • Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox
    • Fu Y.H., Kuhl D.P., Pizzuti A., Pieretti M., Sutcliffe J.S., 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, 65:1047-1058.
    • (1991) Cell , vol.65 , pp. 1047-1058
    • Fu, Y.H.1    Kuhl, D.P.2    Pizzuti, A.3    Pieretti, M.4    Sutcliffe, J.S.5    Richards, S.6
  • 17
    • 0034639857 scopus 로고    scopus 로고
    • Understanding the molecular basis of fragile X syndrome
    • Jin P., Warren S.T. Understanding the molecular basis of fragile X syndrome. Hum Mol Genet 2000, 9:901-908.
    • (2000) Hum Mol Genet , vol.9 , pp. 901-908
    • Jin, P.1    Warren, S.T.2
  • 18
    • 0020507697 scopus 로고
    • A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases
    • Hagberg B., Aicardi J., Dias K., Ramos O. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases. Ann Neurol 1983, 14:471-479.
    • (1983) Ann Neurol , vol.14 , pp. 471-479
    • Hagberg, B.1    Aicardi, J.2    Dias, K.3    Ramos, O.4
  • 19
    • 0032830639 scopus 로고    scopus 로고
    • Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
    • Amir R.E., Van den Veyver I.B., Wan M., Tran C.Q., Francke U., Zoghbi H.Y. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999, 23:185-188.
    • (1999) Nat Genet , vol.23 , pp. 185-188
    • Amir, R.E.1    Van den Veyver, I.B.2    Wan, M.3    Tran, C.Q.4    Francke, U.5    Zoghbi, H.Y.6
  • 20
    • 0034701904 scopus 로고    scopus 로고
    • Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients
    • Huppke P., Laccone F., Krämer N., Engel W., Hanefeld F. Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. Hum Mol Genet 2000, 9:1369-1375.
    • (2000) Hum Mol Genet , vol.9 , pp. 1369-1375
    • Huppke, P.1    Laccone, F.2    Krämer, N.3    Engel, W.4    Hanefeld, F.5
  • 21
    • 9244265544 scopus 로고    scopus 로고
    • Rett syndrome: clinical and molecular update
    • Percy A.K., Lane J.B. Rett syndrome: clinical and molecular update. Curr Opin Pediatr 2004, 16:670-677.
    • (2004) Curr Opin Pediatr , vol.16 , pp. 670-677
    • Percy, A.K.1    Lane, J.B.2
  • 22
    • 35648978121 scopus 로고    scopus 로고
    • The story of Rett syndrome: from clinic to neurobiology
    • Chahrour M., Zoghbi H.Y. The story of Rett syndrome: from clinic to neurobiology. Neuron 2007, 56:422-437.
    • (2007) Neuron , vol.56 , pp. 422-437
    • Chahrour, M.1    Zoghbi, H.Y.2
  • 23
    • 0033782822 scopus 로고    scopus 로고
    • Myotonic dystrophies
    • Meola G. Myotonic dystrophies. Curr Opin Neurol 2000, 13:519-525.
    • (2000) Curr Opin Neurol , vol.13 , pp. 519-525
    • Meola, G.1
  • 24
    • 34648839886 scopus 로고    scopus 로고
    • Myotonic dystrophy: RNA-mediated muscle disease
    • Wheeler T.M., Thornton C.A. Myotonic dystrophy: RNA-mediated muscle disease. Curr Opin Neurol 2007, 20:572-576.
    • (2007) Curr Opin Neurol , vol.20 , pp. 572-576
    • Wheeler, T.M.1    Thornton, C.A.2
  • 25
    • 0344466705 scopus 로고    scopus 로고
    • Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]
    • Potocki L., Shaw C.J., Stankiewicz P., Lupski J.R. Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]. Genet Med 2003, 5:430-434.
    • (2003) Genet Med , vol.5 , pp. 430-434
    • Potocki, L.1    Shaw, C.J.2    Stankiewicz, P.3    Lupski, J.R.4
  • 28
    • 0037242817 scopus 로고    scopus 로고
    • Beta 1-adrenergic antagonists and melatonin reset the clock and restore sleep in a circadian disorder. Smith-Magenis syndrome
    • De Leersnyder H., Bresson J.L., de Blois M.C., Souberbielle J.C., Mogenet A., Delhotal-Landes B., et al. Beta 1-adrenergic antagonists and melatonin reset the clock and restore sleep in a circadian disorder. Smith-Magenis syndrome. J Med Genet 2003, 40:74-78.
    • (2003) J Med Genet , vol.40 , pp. 74-78
    • De Leersnyder, H.1    Bresson, J.L.2    de Blois, M.C.3    Souberbielle, J.C.4    Mogenet, A.5    Delhotal-Landes, B.6
  • 29
    • 0029073758 scopus 로고
    • Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus
    • Kotzot D., Bernasconi F., Brecevic L., Robinson W.P., Kiss P., Kosztolanyi G., et al. Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus. Eur J Pediatr 1995, 154:477-482.
    • (1995) Eur J Pediatr , vol.154 , pp. 477-482
    • Kotzot, D.1    Bernasconi, F.2    Brecevic, L.3    Robinson, W.P.4    Kiss, P.5    Kosztolanyi, G.6
  • 30
    • 0032837598 scopus 로고    scopus 로고
    • Williams-Beuren syndrome: genes and mechanisms
    • Francke U. Williams-Beuren syndrome: genes and mechanisms. Hum Mol Genet 1999, 8:1947-1954.
    • (1999) Hum Mol Genet , vol.8 , pp. 1947-1954
    • Francke, U.1
  • 31
    • 0141960163 scopus 로고    scopus 로고
    • Williams-Beuren syndrome: a challenge for genotype-phenotype correlations
    • Tassabehji M. Williams-Beuren syndrome: a challenge for genotype-phenotype correlations. Hum Mol Genet 2003, 12:229-237.
    • (2003) Hum Mol Genet , vol.12 , pp. 229-237
    • Tassabehji, M.1
  • 32
    • 16944364802 scopus 로고    scopus 로고
    • Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study
    • Ryan A.K., Goodship J.A., Wilson D.I., Philip N., Levy A., Seidel H., et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 1997, 34:798-804.
    • (1997) J Med Genet , vol.34 , pp. 798-804
    • Ryan, A.K.1    Goodship, J.A.2    Wilson, D.I.3    Philip, N.4    Levy, A.5    Seidel, H.6
  • 33
    • 0036889598 scopus 로고    scopus 로고
    • Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes)
    • Perez E., Sullivan K.E. Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes). Curr Opin Pediatr 2002, 14:678-683.
    • (2002) Curr Opin Pediatr , vol.14 , pp. 678-683
    • Perez, E.1    Sullivan, K.E.2
  • 34
    • 44149115417 scopus 로고    scopus 로고
    • Velocardiofacial syndrome: 30 years of study
    • Shprintzen R.J. Velocardiofacial syndrome: 30 years of study. Dev Disabil Res Rev 2008, 14:3-10.
    • (2008) Dev Disabil Res Rev , vol.14 , pp. 3-10
    • Shprintzen, R.J.1
  • 35
    • 0037006412 scopus 로고    scopus 로고
    • Schizophrenia and velocardiofacial syndrome
    • Murphy K.C. Schizophrenia and velocardiofacial syndrome. Lancet 2002, 359:426-430.
    • (2002) Lancet , vol.359 , pp. 426-430
    • Murphy, K.C.1
  • 36
    • 0021084827 scopus 로고
    • Developmental and degenerative patterns associated with cognitive, behavioural and motor difficulties in the Sanfilippo syndrome: an epidemiological study
    • Nidiffer F.D., Kelly T.E. Developmental and degenerative patterns associated with cognitive, behavioural and motor difficulties in the Sanfilippo syndrome: an epidemiological study. J Ment Defic Res 1983, 27:185-203.
    • (1983) J Ment Defic Res , vol.27 , pp. 185-203
    • Nidiffer, F.D.1    Kelly, T.E.2
  • 38
    • 0031748574 scopus 로고    scopus 로고
    • Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum?
    • The Italian Collaborative Study Group on Homocystinuria
    • De Franchis R., Sperandeo M.P., Sebastio G., Andria G. Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum?. Eur J Pediatr 1998, 157:S67-70. The Italian Collaborative Study Group on Homocystinuria.
    • (1998) Eur J Pediatr , vol.157
    • De Franchis, R.1    Sperandeo, M.P.2    Sebastio, G.3    Andria, G.4
  • 39
    • 0030977833 scopus 로고    scopus 로고
    • The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients
    • Gibson K.M., Christensen E., Jakobs C., Fowler B., Clarke M.A., Hammersen G., et al. The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients. Pediatrics 1997, 99:567-574.
    • (1997) Pediatrics , vol.99 , pp. 567-574
    • Gibson, K.M.1    Christensen, E.2    Jakobs, C.3    Fowler, B.4    Clarke, M.A.5    Hammersen, G.6
  • 40
    • 65949096495 scopus 로고    scopus 로고
    • A pilot open label, single dose trial of fenobam in adults with Fragile X syndrome
    • Berry-Kravis E., Hessl D., Coffey S., Hervey C., Schneider A., Yuhas J., et al. A pilot open label, single dose trial of fenobam in adults with Fragile X syndrome. J Med Genet 2009, 46:266-271.
    • (2009) J Med Genet , vol.46 , pp. 266-271
    • Berry-Kravis, E.1    Hessl, D.2    Coffey, S.3    Hervey, C.4    Schneider, A.5    Yuhas, J.6
  • 41
    • 67650828361 scopus 로고    scopus 로고
    • Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA
    • Wheeler T.M., Sobczak K., Lueck J.D., Osborne R.J., Lin X., Dirksen R.T., et al. Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA. Science 2009, 325:336-339.
    • (2009) Science , vol.325 , pp. 336-339
    • Wheeler, T.M.1    Sobczak, K.2    Lueck, J.D.3    Osborne, R.J.4    Lin, X.5    Dirksen, R.T.6


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