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Eighth International Workshop on the fragile X syndrome and X-linked mental retardation, August 16-22, 1997

1999; Wiley; Volume: 83; Issue: 4 Linguagem: Inglês

10.1002/(sici)1096-8628(19990402)83

1096-8628

Jeanette J. A. Holden, Maire E. Percy, Diane Allingham‐Hawkins, W. Ted Brown, Pietro Chiurazzi, Gene S. Fisch, Louise W. Gane, Chris Gunter, Randi J. Hagerman, Edmund C. Jenkins, R. Frank Kooy, Herbert A. Lubs, Anna Murray, Giovanni Neri, Charles E. Schwartz, Lisbeth Tranebjærg, Laurent Villard, Patrick J. Willems,

Autism Spectrum Disorder Research

American Journal of Medical GeneticsVolume 83, Issue 4 p. 221-236 Conference Report Eighth International Workshop on the fragile X syndrome and X-linked mental retardation, August 16–22, 1997 Jeanette J.A. Holden, Corresponding Author Jeanette J.A. Holden Department of Psychiatry, Queen's University and Cytogenetics & DNA Research Laboratory, Ongwanada, Kingston, OntarioDepartment of Psychiatry, Queen's University and Cytogenetics and DNA Research Laboratory, Ongwanada, Kingston, Ontario, Canada K7M BA6Search for more papers by this authorMaire Percy, Maire Percy Department of Neurogenetics, Surrey Place Center, Toronto, OntarioSearch for more papers by this authorDiane Allingham-Hawkins, Diane Allingham-Hawkins Molecular Genetics Laboratory, North York General Hospital, North York, OntarioSearch for more papers by this authorW. Ted Brown, W. Ted Brown New York State Institute for Basic Research, Staten Island, New YorkSearch for more papers by this authorPietro Chiurazzi, Pietro Chiurazzi Institute of Medical Genetics, Catholic University, Rome, ItalySearch for more papers by this authorGene Fisch, Gene Fisch General Clinical Research Center, Yale University, New Haven, ConnecticutSearch for more papers by this authorLouise Gane, Louise Gane Child Development Unit, The Children's Hospital, Denver, ColoradoSearch for more papers by this authorChris Gunter, Chris Gunter Department of Biochemistry, Emory University, Atlanta, GeorgiaSearch for more papers by this authorRandi Hagerman, Randi Hagerman Child Development Unit, The Children's Hospital, Denver, ColoradoSearch for more papers by this authorEdmund C. Jenkins, Edmund C. Jenkins New York State Institute for Basic Research, Staten Island, New YorkSearch for more papers by this authorR. Frank Kooy, R. Frank Kooy Department of Medical Genetics, University of Antwerp, Antwerp, BelgiumSearch for more papers by this authorHerbert A. Lubs, Herbert A. Lubs Department of Pediatrics, Genetic Division, School of Medicine, University of Miami, Miami, Florida Department of Medical Genetics, University Hospital of Tromsö, NorwaySearch for more papers by this authorAnna Murray, Anna Murray Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wiltshire, England, United KingdomSearch for more papers by this authorGiovanni Neri, Giovanni Neri Institute of Medical Genetics, Catholic University, Rome, ItalySearch for more papers by this authorCharles Schwartz, Charles Schwartz JC Self Research Institute, Greenwood Genetic Center, Greenwood, South CarolinaSearch for more papers by this authorLisbeth Tranebjaerg, Lisbeth Tranebjaerg Department of Medical Genetics, University Hospital of Tromsö, NorwaySearch for more papers by this authorLaurent Villard, Laurent Villard INSERM U491, Faculté de Médecine, Marseille, FranceSearch for more papers by this authorPatrick J. Willems, Patrick J. Willems Department of Medical Genetics, University of Antwerp, Antwerp, BelgiumSearch for more papers by this author Jeanette J.A. Holden, Corresponding Author Jeanette J.A. Holden Department of Psychiatry, Queen's University and Cytogenetics & DNA Research Laboratory, Ongwanada, Kingston, OntarioDepartment of Psychiatry, Queen's University and Cytogenetics and DNA Research Laboratory, Ongwanada, Kingston, Ontario, Canada K7M BA6Search for more papers by this authorMaire Percy, Maire Percy Department of Neurogenetics, Surrey Place Center, Toronto, OntarioSearch for more papers by this authorDiane Allingham-Hawkins, Diane Allingham-Hawkins Molecular Genetics Laboratory, North York General Hospital, North York, OntarioSearch for more papers by this authorW. Ted Brown, W. Ted Brown New York State Institute for Basic Research, Staten Island, New YorkSearch for more papers by this authorPietro Chiurazzi, Pietro Chiurazzi Institute of Medical Genetics, Catholic University, Rome, ItalySearch for more papers by this authorGene Fisch, Gene Fisch General Clinical Research Center, Yale University, New Haven, ConnecticutSearch for more papers by this authorLouise Gane, Louise Gane Child Development Unit, The Children's Hospital, Denver, ColoradoSearch for more papers by this authorChris Gunter, Chris Gunter Department of Biochemistry, Emory University, Atlanta, GeorgiaSearch for more papers by this authorRandi Hagerman, Randi Hagerman Child Development Unit, The Children's Hospital, Denver, ColoradoSearch for more papers by this authorEdmund C. Jenkins, Edmund C. Jenkins New York State Institute for Basic Research, Staten Island, New YorkSearch for more papers by this authorR. Frank Kooy, R. Frank Kooy Department of Medical Genetics, University of Antwerp, Antwerp, BelgiumSearch for more papers by this authorHerbert A. Lubs, Herbert A. Lubs Department of Pediatrics, Genetic Division, School of Medicine, University of Miami, Miami, Florida Department of Medical Genetics, University Hospital of Tromsö, NorwaySearch for more papers by this authorAnna Murray, Anna Murray Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wiltshire, England, United KingdomSearch for more papers by this authorGiovanni Neri, Giovanni Neri Institute of Medical Genetics, Catholic University, Rome, ItalySearch for more papers by this authorCharles Schwartz, Charles Schwartz JC Self Research Institute, Greenwood Genetic Center, Greenwood, South CarolinaSearch for more papers by this authorLisbeth Tranebjaerg, Lisbeth Tranebjaerg Department of Medical Genetics, University Hospital of Tromsö, NorwaySearch for more papers by this authorLaurent Villard, Laurent Villard INSERM U491, Faculté de Médecine, Marseille, FranceSearch for more papers by this authorPatrick J. Willems, Patrick J. Willems Department of Medical Genetics, University of Antwerp, Antwerp, BelgiumSearch for more papers by this author First published: 24 March 1999 https://doi.org/10.1002/(SICI)1096-8628(19990402)83:4 3.0.CO;2-KCitations: 10AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat REFERENCES Allingham-Hawkins DJ, Ray PN. 1995. FRAXE expansion is not a common etiological factor among developmentally delayed males. Am J Hum Genet 57: 72–76. Bakker CE, Verheij C, Willemsen R, van der Helm R, Oerlemans F, Vermey M, Bygrave A, Hoogeveen AT, Oostra BA, Reyniers E, De Boulle K, D'Hooge R, Cras P, van Velzen D, Nagels G, Martin J-J, De Deyn PP, Darby JK, Willems PJ. 1994. Fmrl knockout mice: a model to study fragile X mental retardation. Cell 78: 23–33. Baumgardner TL, Reiss AL, Freund LS, Abrams MT. 1995. Specification of the neurobehavioral phenotype in males with fragile X syndrome. Pediatrics 95: 744–752. Bennetto L, Pennington BF. 1996. The Neuropsychology of Fragile X Syndrome. In: Hagerman RJ, A Cronister, editors. Fragile X syndrome: diagnosis, treatment and research. Baltimore: The Johns Hopkins University Press, p 210–248. Bontekoe CJM, de Graaff E, Nieuwenhuizen IM, Willemsen R, Oostra BA. 1997. FMR1 premutation allele (CGG)81 is stable in mice. Eur J Hum Genet 5: 293–298. Borghgraef M, Umans S, Steyaert J, Legius E, Fryns JP. 1996. New findings in the behavioral profile of young FraX females. Am J Med Genet 64: 346–349. Brown WT. 1996. The FRAXE syndrome: is it time for routine screening? Am J Hum Genet 58: 903–905. Bushby KM. 1992. Centiles for adult head circumference. Arch Dis Children 67: 1286–1287. Carpenter NJ, Waiziri M, Liston J, Patil SR. 1988. Studies on X-linked mental retardation: evidence for a gene in the region Xq11-q22. Am J Hum Genet 43: A139. Cohen IL, Vietze PM, Sudhalter V, Jenkins EC, Brown WT. 1989. Parent-child dyadic gaze patterns in fragile X males and in non-fragile X males with autistic disorder. J Child Psychol Psychiatry 30: 845–856. Comery TA, Harris JB, Willems PJ, Oostra BA, Irwin SA, Weiler IJ, Greenough WT. 1997. Abnormal dendritic spines in fragile X knockout mouse: maturation and pruning deficits. Proc Natl Acad Sci USA 94: 5401–5404. Das S, Kubota T, Song M, Daniel R, Berry-Kravis EM, Prior TW, Popovich B, Rosser L, Arinami T, Ledbetter DH. 1997 /1998. Methylation analysis of the fragile X syndrome by PCR. Genet Testing 1: 151–155. De Vries BB, Wiegers AM, Smits AP, Mohkamsing S, Duivevoorden HJ, Fryns JP, Curfs LM, Halley DJ, Oostra BA, van den Ouweland AM, Niermeijer MF. 1996. Mental status of females with an FMR1 gene full mutation. Am J Med Genet 58: 1025–1032. D'Hooge R, Nagels, G, Franck, F, Bakker, CE, Reyniers, E, Storm, K, Kooy, RF, Oostra, BA, Willems, PJ, De Deyn, PP. 1997. Mildly impaired water maze performance in male Fmrl knockout mice. Neuroscience 76: 367–376. Escalante JA. 1971. Estudo genetico da deficiencia mental. Sao Paulo: University of Sao Paulo Franke P, Maier W, Hautzinger M, Weiffenbach O, Gansicke M, Iwers B, Poustka F, Schwab SG, Froster U. 1996. Fragile X carrier females: evidence for a distinct psychopathological phenotype? Am J Med Genet 64: 334–339. Fryns JP, Dereymaeker AM, Hoefnagels M, Volcke P, van den Berghe H. 1986. Partial fra(X) phenotype with megalotestes in fra(X) negative patients with acquired lesions of the central nervous system. Am J Med Genet 23: 213–219. Hagerman RJ. 1996. Medical follow-up and pharmacotherapy. In RJ Hagerman, A Cronister editors. Fragile X syndrome: diagnosis, treatment, and research, 2nd edition. Baltimore: The Johns Hopkins University Press. p 283–331. Hagerman RJ, Jackson C, Amiri K, Silverman AC, O'Connor R, Sobesky W. 1992. Girls with fragile X syndrome: physical and neurocognitive status and outcome. Pediatrics 89: 395–400. Holden JJA, Chalifoux M, Wing M, Julien-Inalsingh C, Lawson JS, Higgins JV, Sherman S, White BN. 1995. Distribution and frequency of FMR1 CGG repeat numbers in the general population. Dev Brain Dysfunct 8: 405–407. Holinski-Feder E, Chahrokh-Zadeh, S, Jedele, KB, Meindl, A, Steinbach, P, Wohrle, D. 1996. FRAXE testing. Am J Hum Genet 59: 1168–1169. Jenkins EC, Brown WT. 1998. Prenatal diagnosis of the fragile X syndrome. In A Milunsky, editor. Genetic disorders of the fetus. Baltimore: The Johns Hopkins University Press. p 314–332. Knight SJL, Flannery AV, Hirst MC, Campbell L, Christodoulou Z, Phelps SR, Pointon J, Middleton-Price HR, Barnicoat A, Pembrey ME, Holland J, Oostra BA, Bobrow M, Davies KE. 1993. Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell 74: 127–134. Knight SJL, Ritchie RJ, Chakrabarti L, Cross G, Taylor GR, Mueller RF, Hurst J, Paterson J, Yates JRW, Dow DJ, Davies KE. 1996. A study of FRAXE in mentally retarded individuals referred for fragile X syndrome (FRAXA) testing in the United Kingdom. Am J Hum Genet 58: 906–913. Kooy RF, D'Hooge R, Reyniers E, Bakker CE, Nagels G, De Boulle K, Storm K, Clincke G, De Deyn PP, Oostra BA, Willems PJ. 1996. Trans-genie mouse model for the fragile X syndrome. Am J Med Genet 64: 241–245. Kunst CB, Warren ST. 1994. Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. Cell 77: 853–861. Lachiewicz A. 1995. Females with fragile X syndrome: a review of the effects of an abnormal gene. Ment Retard Dev Disabil Rev 1: 292–297. Lachiewicz AM, Spiridigliozzi GA, Guillion CM, Ransford SN, Rao K. 1994. Aberrant behaviors of young boys with fragile X syndrome. Am J Ment Retard 98: 567–579. Loesch DZ, Hay DA. 1988. Clinical features and reproductive patterns in fragile X female heterozygotes. J Med Genet 25: 407–414. Mazzocco MMM, Kates WR, Baumgardner TL, Freund LS, Reiss AL. 1997. Autistic behaviors among girls with fragile X syndrome. J Autism Dev Disord 27: 415–435. Mazzocco MMM, Pennington BF, Hagerman RJ. 1993. The neurocognitive phenotype of female carriers of fragile X: additional evidence for specificity. J Dev Behav Pediatr 14: 328–335. Meadows KL, Pettay D, Newman J, Hersey J, Ashley AE, Sherman SL. 1996. Survey of the fragile X syndrome and the fragile X E syndrome in a special education needs population. Am J Med Genet 64: 428–433. Merenstein SA, Sobesky WE, Taylor AK, Riddle JE, Tran HX, Hagerman RJ. 1996. Molecular-clinical correlations in males with an expanded FMR1 mutation. Am J Med Genet 64: 388–394. Morton JE, Bundey S, Webb TP, Macdonald F, Rindl PM, Bullock S. 1997. Fragile X syndrome is less common than previously estimated. J Med Genet 34: 1–5. Murray A, Youings S, Dennis N, Latsky L, Linehan P, McKechnie N, Macpherson J, Pound M, Jacobs PA. 1996. Population screening at the FRAXA and FRAXE loci: molecular analysis of boys with learning difficulties and their mothers. Hum Mol Genet 5: 727–735. Pai GS, Hane B, Joseph M, Nelson R, Hammond LS, Arena JF, Lubs HA, Stevenson RE, Schwartz CE. 1997. A new X-linked recessive syndrome of mental retardation and mild dysmorphism maps to Xq28. J Med Genet 34: 529–534. Reiss AL, Abrams MT, Greenlaw R, Freund L, Denckla MB. 1995. Neurodevelopmental effects of the FMR1 full mutation in humans. Nat Med 1: 159–167. Reiss AL, Aylward E, Freund LS, Joshi PK, Bryan RN. 1991. Neuroanatomy of fragile X syndrome: the posterior fossa. Ann Neurol 29: 26–32. Reiss AL, Freund LS, Abrams MT, Boehm C, Kazazian H. 1993. Neurobehavioral effects of the fragile X premutation in adult women: a controlled study. Am J Hum Genet 52: 884–894. Reiss AL, Freund LS, Vinogradov S, Hagerman R, Cronister A. 1989. Parental inheritance and psychological disability in fragile X females. Am J Hum Genet 45: 697–705. Reiss AL, Kazazian HH, Krebs CM, Mcaughan A, Boehm CD, Abrams MT, Nelson DL. 1994. Frequency and stability of the fragile X premutation. Hum Mol Genet 3: 393–398. Reiss AL, Lee J, Freund L. 1994. Neuroanatomy of fragile X syndrome: the temporal lobe. Neurology 44: 1317–1324. Rousseau F, Heitz D, Tarleton J, Macpherson J, Malmgren H, Dahl N, Barnicoat A, Mathew C, Mornet E, Tejada I, Maddalena A, Spiegel R, Schinzel A, Marcos JAG, Schorderet DF, Schaap T, Maccioni L, Russo S, Jacobs PA, Schwartz C, Mandel JL. 1994. A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases. Am J Hum Genet 55: 225–237. Rousseau F, Rouillard P, Morel M-L, Khandjian EW, Morgan K. 1995. Prevalence of carriers of premutation-sized alleles of the FMR1 gene—and implications for the population genetics of the fragile X syndrome. Am J Hum Genet 57: 1006–1018. Schapiro M, Murphy G, Hagerman R, Azari N, Alexander G, Miezejeski C, Hinton V, Horowitz B, Haxby J, Kumar A, White B, Grady C. 1995. Adult fragile X syndrome: neuropsychology, brain anatomy, and metabolism. Am J Med Genet 60: 480–493. Sobesky WE, Hull CE, Hagerman RJ. 1994a. Symptoms of schizotypal personality disorder in fragile X women. J Am Acad Child Adolesc Psychiatry 33: 247–255. Sobesky WE, Pennington BF, Porter D, Hull CE, Hagerman RJ. 1994b. Emotional and neurocognitive deficits in fragile X. Am J Med Genet 51: 378–385. Sobesky WE, Porter D, Pennington BF, Hagerman RJ. 1995. Dimensions of shyness in fragile X females. Dev Brain Dysfunct 8: 280–292. Spence WC, Black SH, Fallon L, Maddalena A, Cummings E, Menapace-Drew G, Bick DP, Levinson G, Schulman JD, Howard-Peebles PN. 1996. Molecular fragile X screening in normal populations. Am J Med Genet 64: 181–183. Stevenson RE, Hane B, Arena JF, May M, Lawrence L, Lubs HA, Schwartz CE. 1997. Arch fingertips, hypotonia, and areflexia associated with X linked mental retardation. J Med Genet 34: 465–469. Steyaert J, Borghgraef M, Legius E, Fryns JP. 1996. Molecular-intelligence correlations in young fragile X males with a mild CGG repeat expansion in the FMR1 gene. Am J Med Genet 64: 274–277. Sudhalter V, Cohen IL, Silverman W, Wolf-Schein EG. 1990. Conversational analyses of males with fragile X, Down syndrome, and autism: comparison of the emergence of deviant language. Am J Ment Retard 94: 431–441. Sutherland GR, Baker E. 1992. Characterisation of a new rare fragile site easily confused with the fragile X. Hum Mol Genet 1: 111–113. Thompson NM, Gulley ML, Rogeness GA, Clayton RJ, Johnson C, Hazelton B, Cho CG, Zellmer VT. 1994. Neurobehavioral characteristics of CGG amplification status in fragile X females. Am J Med Genet 54: 378–383. Turner G, Brookwell R, Daniel A, Selikowitz M, Silibowitz M. 1980. Heterozygous expression of X-linked mental retardation and X-chromosome marker fra(X)(q27). N Engl J Med 303: 662–664. Turner G, Robinson H, Laign S, Purvis-Smith S. 1986. Preventative screening for the fragile X syndrome. N Engl J Med 315: 607–609. Turner G, Webb T, Wake S, Robinson H. 1996. Prevalence of fragile X syndrome. Am J Med Genet 64: 196–197. Van den Ouweland AMW, deVries BBA, Bakker PLG, Deelen WH, de Graff E, van Kernel JO, Oostra BA, Niermeijer MF, Halley DJJ. 1994. DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene. Am J Med Genet 51: 482–485. Wang Q, Green E, Bobrow M, Matthew CG. 1995. A rapid non-radioactive screening test for fragile X mutations at the FRAXA and FRAXE loci. J Med Genet 32: 170–173. Webb T, Bundey S, Thake J, Todd A. 1986. The frequency of the fragile X chromosome among school children in Coventry. J Med Genet 23: 396–399. Zhong N, Ju W, Curley D, Wang D, Pitrofesa J, Wu G, Shen Y, Pang C, Poon P, Liu X, Gou S, Kajanoja E, Ryynänen M, Dobkin C, Brown WT. 1996. A survey of FRAXE allele sizes in three populations. Am J Med Genet 64: 415–419. Citing Literature Volume83, Issue4Special Issue: X‐Linked Mental Retardation, Part I2 April 1999Pages 221-236 ReferencesRelatedInformation