Molecular genetic analysis of the FMR-1 gene in a large collection of autistic patients

Human Genetics

Volumn 100, Issue 2, 1997, Pages 224-229

  Klauck, Sabine M ^a   Münstermann, Ewald ^a   Bieber Martig, Bettina ^b   Rühl, Dorothea ^b   Lisch, Sonja ^b   Schmötzer, Gabriele ^b   Poustka, Annemarie ^a   Poustka, Fritz ^b  

^a GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^b GOETHE UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA;

ALGORITHM; ARTICLE; AUTISM; CHROMOSOME XQ; DNA METHYLATION; DNA PROBE; FRAGILE X SYNDROME; GENE; GENE AMPLIFICATION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; PSYCHOMETRY; SOUTHERN BLOTTING; TRINUCLEOTIDE REPEAT;

AUTISTIC DISORDER; DIAGNOSIS, DIFFERENTIAL; DNA PROBES; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GENETIC MARKERS; HUMANS; MALE; NERVE TISSUE PROTEINS; POLYMERASE CHAIN REACTION; PSYCHOLOGICAL TESTS; RNA-BINDING PROTEINS; TRINUCLEOTIDE REPEATS;

EID: 1842288542     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050495     Document Type: Article

References (36)

1. American Psychiatric Association (1994) Diagnostic and statistical manual of mental disorders, 4th edn. American Psychiatric Association, Washington, DC
2. Bailey A, Bolton P, Butler L, Le Couteur A, Murphy M, Scott S, Webb T, Rutter M (1993) Prevalence of the fragile X anomaly amongst autistic twins and singletons. J Child Psychol Psychiatry 34: 673-688
3. Bailey A, Le Couteur A, Gottesman I, Bolton P, Simonoff E, Yuzda E, Rutter M (1995) Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med 25: 63-77
4. Blomquist HK, Bohman M, Edvinsson SO, Gillberg C, Gustavson K-H, Holmgren G, Wahlström J (1985) Frequency of the fragile X syndrome in infantile autism. Clin Genet 27:113-117
5. Bolton P, Macdonald H, Pickles A, Rios P, Goode S, Crowson M, Bailey A, Rutter (1994) A case-control family history study of autism. J Child Psychol Psychiatry 35:877-900
6. Cohen IL, Sudhalter V, Pfadt A, Jenkins EC, Brown WT, Vietze PM (1991) Why are autism and the fragile-X syndrome associated? Conceptual and methodological issues. Am J Hum Genet 48:195-202
7. De Boulle K, Verkerk AJMH, Reyniers E, Vits L, Hendrickx J. Van Roy B, Van Den Bos F, Graff E de, Oostra BA, Willems P (1993) A point mutation in the FMR-1 gene associated with fragile X mental retardation. Nat Genet 3:31-35
8. Dietrich A, Kioschis P, Monaco AP, Gross B, Korn B, Williams SV, Sheer D, Heitz D, Oberle I, Toniolo D, Warren ST, Lehrach H, Poustka A (1991) Molecular cloning and analysis of the fragile X region in man. Nucleic Acids Res 19:2567-2572
9. Einfeld S, Moloney H, Hall W (1989) Autism is not associated with the fragile X syndrome. Am J Med Genet 34:187-193
10. Folstein SE, Piven J (1991) Etiology of autism: genetic influences. Pediatrics (Suppl) 87:767-773
11. Folstein S, Rutter M (1977) Infantile autism: a genetic study of 21 twin pairs. J Child Psychol Psychiatry 18:297-321
12. Gedeon AK, Baker E, Robinson H, Partington MW, Gross B, Manca A, Korn B, Poustka A, Yu S, Sutherland GR, Mulley JC (1992) Fragile X syndrome without CCG amplification has an FMR1 deletion. Nat Genet 1:341-344
13. Hagerman R (1992) Clinical conundrums in fragile X syndrome. Nat Genet 1:157-158
14. Hagerman RJ, Hull CE, Safanda JF, Carpenter I, Staley LW, O'Connor RA, Seydel C, Mazzocco MMM, Snow K, Thibodeau SN, Kuhl D, Nelson DL, Caskey CT, Taylor AK (1994) High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression. Am J Med Genet 51:298-308
15. Hallmayer J, Pintado E, Lotspeich L, Spiker D, McMahon W, Petersen PB, Nicholas P, Pingree C, Kraemer HC, Wong DL, Ritvo E, Lin A, Hebert J, Cavalli-Sforza LL, Ciaranello RD (1994) Molecular analysis and test of linkage between the FMR-1 gene and infantile autism in multiplex families. Am J Hum Genet 55:951-959
16. Hallmayer J, Hebert JM, Spiker D, Lotspeich L, McMahon WM, Petersen PB, Nicholas P, Pingree C, Lin AA, Cavalli-Sforza LL, Risch N, Ciaranello RD (1996a) Autism and the X chromosome: multipoint sib pair analysis. Arch Gen Psychiatry 53: 985-989
17. Hallmayer J, Spiker D, Lotspeich L, McMahon WM, Petersen PB, Nicholas P, Pingree C, Ciaranello RD (1996b) Male-to-male transmission in extended pedigrees with multiple cases of autism. Am J Med Genet 67:13-18
18. ICD-10 (1993) The ICD-10 classification of mental and behavioural disorders. Diagnostic criteria for research. Geneva, WHO
19. Le Couteur A, Rutter M, Lord C, Rios P, Robertson S, Holdgrafer M, McLennan J (1989) Autism diagnostic interview: a standardized investigator-based instrument. J Autism Dev Disord 19:363-387
20. Lord C, Rutter M, Goode S, Heemsbergen J, Jordan H, Mawhood L, Schopler F (1989) Autism diagnostic observation of communicative and social behaviour. J Autism Dev Disord 19:185-212
21. Oherlé I, Rousseau F, Heitz D, Kretz C, Devys D; Hanauer A, Boué J, Bertheas MF, Mandel JL (1991) Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 252:1097-1102
22. Poustka F, Lisch S, Rühl D, Sacher A, Schmötzer G, Werner K (1996) The standardized diagnosis of autism: Autism Diagnostic Interview-Revised: inter-rater reliability of the German form of the ADI-R. Psychopathology 29:145-153
23. Reiss AL, Freund LS, Baumgardner TL, Abrams MT, Denckla MB (1995) Contribution of the FMR1 gene mutation to human intellectual dysfunction. Nat Genet 11:331-334
24. Ritvo ER, Freeman BJ, Mason-Brothers A, Mo A, Ritvo AM (1985) Concordance for the syndrome of autism in 40 pairs of afflicted twins. Am J Psychiatry 142:74-77
25. Rühl D, Werner K, Poustka F (1995) Untersachungen zur Intelligenzstruktur autistischer Personen. Z. Kinder Jugendpsychatr 23:95-113
26. Smalley SL, Asamow RF, Spence A (1988) Autism and genetics. Arch Gen Psychiatry 45:953-961
27. Smeets HJM, Smits APT, Verheij CE, Theelen JPG, Willemsen R, Burgt I van de, Hoogeveen AT, Osterwijk JC, Oostra BA (1995) Normal phenotype in two brothers with a full FMR1 mutation. Hum Mol Genet 4:2103-2108
28. Steffenburg S, Gillberg C, Hellgren L, Andersson L, Gillberg IC, Jakobsson G, Bohman M (1989) A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden. J Child Psychol Psychiatry 30:405-416
29. Suthers GK, Callen DF, Hyland VJ, Kozman HM, Baker E, Eyre H, Harper PS, Roberts SH, Hors-Cayla MC, Davies KE (1989) A new DNA marker tightly linked to the fragile X locus (FRAXA). Science 246:1298-1300
30. Venter PA, Op't Hof J, Coetzee DJ, Van der Walt C, Retief AE (1984) No marker (X) syndrome in autistic children. Hum Genet 67:107
31. Verkerk AJMH, Pieretti M, Sutcliffe JS, Fu Y-H, Kuhl DPA, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang F, Bussen BE, Ommen G-JB van, Blonden LAJ, Riggins GJ, Chastain JL, Kunst CB, Galjaard H, Caskey CT, Nelson DL, Oostra BA, Warren ST (1991) Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65:905-914
32. Vincent JB, Konecki DS, Munstermann E, Bolton P, Poustka A, Poustka F, Gurling HMD (1996) Point mutation analysis of the FMR-1 gene in autism. Mol Psychiatry 1:227-231
33. Watson MS, Leckman JF, Annex B, Breg WR, Boles D, Volkmar FR, Cohen DJ (1984) Fragile X in a survey of 75 autistic males. N Engl J Med 310:1462
34. Weeks DE; Lathrop GM (1995) Polygenic disease: methods for mapping complex disease traits. Trends Genet 11:513-519
35. Wöhrle D, Kotzot D, Hirst MC, Manca A, Korn B, Schmidt A, Barbi G, Rott H-D, Poustka A, Davies KE, Steinbach P (1992) 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 51:299-306
36. Yu S, Pritchard M, Kremer E, Lynch M, Nancarrow J, Baker E, Holman K, Mulley JC, Warren ST, Schlessinger D, Sutherland OR, Richards RI (1991) Fragile X genotype characterized by an unstable region of DNA. Science 252:1179-1181