Identification of expanded alleles of the FMR1 gene in the childhood autism risks from genes and environment (CHARGE) study

Journal of Autism and Developmental Disorders

Volumn 43, Issue 3, 2013, Pages 530-539

  Tassone, Flora ^a,b   Choudhary, Nimrah S ^a   Tassone, Federica ^a   Durbin Johnson, Blythe ^a   Hansen, Robin ^a,b   Hertz Picciotto, Irva ^a,b,c   Pessah, Isaac ^b,c  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Autism spectrum disorder; CGG; Developmental delay; Fragile X; Premutation; Screening

Indexed keywords

ADULT; AGED; ARTICLE; AUTISM; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN GENE; GENE; GENE IDENTIFICATION; GENETIC RISK; GENETIC SCREENING; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL;

ALLELES; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENOTYPE; HUMANS; MALE; TRINUCLEOTIDE REPEAT EXPANSION; TRINUCLEOTIDE REPEATS;

EID: 84879501996     PISSN: 01623257     EISSN: 15733432     Source Type: Journal    
DOI: 10.1007/s10803-012-1580-2     Document Type: Article

References (79)

1. Aziz, M.; Stathopulu, E.; Callias, M.; Taylor, C.; Turk, J.; Oostra, B.; et al. (2003). Clinical features of boys with fragile X premutations and intermediate alleles. American Journal of Medical Genetics, 121B(1), 119-127.
2. Bailey, A.; Bolton, P.; Butler, L.; Le Couteur, A.; Murphy, M.; Scott, S.; et al. (1993). Prevalence of the fragile X anomaly amongst autistic twins and singletons. J of Child Psychology and Psychiatry, 34(5), 673-688.
3. Bailey, D. B.; Jr, Hatton, D. D.; Mesibov, G. B.; Ament, N.; Skinner, M. (2000). Early development, temperament and functional impairment in autism and fragile X syndrome. Journal of Autism and Developmental Disorders, 30(1), 49-59.
4. Bailey, D. B.; Jr, Hatton, D. D.; Skinner, M.; Mesibov, G. B. (2001). Autistic behavior, FMR1 protein, and developmental trajectories in young males with fragile X syndrome. Journal of Autism and Developmental Disorder, 31(2), 165-174.
5. Bailey, D. B.; Jr.; Raspa, M.; Olmsted, M.; Holiday, D. B. (2008). Co-occurring conditions associated with FMR1 gene variations: Findings from a national parent survey. American Journal of Medical Genetics, Part A, 146A(16), 2060-2069.
6. Biancalana, V.; Beldjord, C.; Taillandier, A.; Szpiro-Tapia, S.; Cusin, V.; Gerson, F.; et al. (2004). Five years of molecular diagnosis of Fragile X syndrome (1997-2001): A collaborative study reporting 95 % of the activity in France. American Journal of Medical Genetics, 129A(3), 218-224.
7. Blomquist, H. K.; Bohman, M.; Edvinsson, S. O.; Gillberg, C.; Gustavson, K. H.; Holmgren, G.; et al. (1985). Frequency of the fragile X syndrome in infantile autism: A Swedish multicenter study. Clinical Genetics, 27(2), 113-117.
8. Bodega, B.; Bione, S.; Dalpra, L.; Toniolo, D.; Ornaghi, F.; Vegetti, W.; et al. (2006). Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation. Human Reproduction, 21(4), 952-957.
9. Bourgeois, J. A.; Coffey, S. M.; Rivera, S. M.; Hessl, D.; Gane, L. W.; Tassone, F.; et al. (2009). A review of fragile X premutation disorders: Expanding the psychiatric perspective. Journal of Clinical Psychiatry, 70(6), 852-862.
10. Bretherick, K. L.; Fluker, M. R.; Robinson, W. P. (2005). FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure. Human Genetics, 117(4), 376-382.
11. Brown, W. T.; Jenkins, E. C.; Cohen, I. L.; Fisch, G. S.; Wolf-Schein, E. G.; Gross, A.; et al. (1986). Fragile X and autism: A multicenter survey. American Journal of Medical Genetics, 23(1-2), 341-352.
12. Chen, L.; Hadd, A.; Sah, S.; Filipovic-Sadic, S.; Krosting, J.; Sekinger, E.; et al. (2010). An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis. Journal of Molecular Diagnostics, 12(5), 589-600.
13. Chonchaiya, W.; Au, J.; Schneider, A.; Hessl, D.; Harris, S. W.; Laird, M.; Mu, Y.; Tassone, F.; Nguyen, D. V.; Hagerman, R. J. (2012). Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder. Human Genetics, 131(4), 581-589. doi: 10.1007/s00439-011-1106-6
14. Clifford, S.; Dissanayake, C.; Bui, Q. M.; Huggins, R.; Taylor, A. K.; Loesch, D. Z. (2007). Autism spectrum phenotype in males and females with fragile X full mutation and premutation. Journal of Autism and Developmental Disorders, 37(4), 738-747.
15. Cronister, A.; Schreiner, R.; Wittenberger, M.; Amiri, K.; Harris, K.; Hagerman, R. J. (1991). Heterozygous fragile X female: Historical, physical, cognitive, and cytogenetic features. American Journal of Medical Genetics, 38(2-3), 269-274.
16. de Vries, B. B.; Mohkamsing, S.; van den Ouweland, A. M.; Halley, D. J.; Niermeijer, M. F.; Oostra, B. A.; et al. (1998). Screening with the FMR1 protein test among mentally retarded males. Human Genetics, 103(4), 520-522.
17. de Vries, B. B.; van den Ouweland, A. M.; Mohkamsing, S.; Duivenvoorden, H. J.; Mol, E.; Gelsema, K.; et al. (1997). Screening and diagnosis for the fragile X syndrome among the mentally retarded: An epidemiological and psychological survey. Collaborative Fragile X Study Group. American Journal of Human Genetics, 61(3), 660-667.
18. Dombrowski, C.; Levesque, M. L.; Morel, M. L.; Rouillard, P.; Morgan, K.; Rousseau, F. (2002). Premutation and intermediate-size FMR1 alleles in 10 572 males from the general population: Loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles. Human Molecular Genetics, 11(4), 371-378.
19. Farzin, F.; Perry, H.; Hessl, D.; Loesch, D.; Cohen, J.; Bacalman, S.; et al. (2006). Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation. Journal of Developmental and Behavioral Pediatrics, 27(2 Suppl), S137-S144.
20. Fatemi, S. H.; Folsom, T. D. (2011). The role of fragile X mental retardation protein in major mental disorders. Neuropharmacology, 60(7-8), 1221-1226.
21. Fatemi, S. H.; Kneeland, R. E.; Liesch, S. B.; Folsom, T. D. (2010). Fragile X mental retardation protein levels are decreased in major psychiatric disorders. Schizophrenia Research, 124(1-3), 246-247.
22. Fernandez-Carvajal, I.; Walichiewicz, P.; Xiaosen, X.; Pan, R.; Hagerman, P. J.; Tassone, F. (2009). Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population. Journal of Molecular Diagnostics, 11(4), 324-329.
23. Filipovic-Sadic, S.; Sah, S.; Chen, L.; Krosting, J.; Sekinger, E.; Zhang, W.; et al. (2010). A novel FMR1 PCR method for the routine detection of low-abundance expanded alleles and full mutations in fragile X syndrome. Clinical Chemistry, 56(3), 399-408.
24. Fu, Y. H.; Kuhl, D. P.; Pizzuti, A.; Pieretti, M.; Sutcliffe, J. S.; Richards, S.; et al. (1991). Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox. Cell, 67(6), 1047-1058.
25. Garcia-Nonell, C.; Ratera, E. R.; Harris, S.; Hessl, D.; Ono, M. Y.; Tartaglia, N.; et al. (2008). Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder. American Journal of Medical Genetics, Part A, 146A(15), 1911-1916.
26. Haddad, L. A.; Aguiar, M. J.; Costa, S. S.; Mingroni-Netto, R. C.; Vianna-Morgante, A. M.; Pena, S. D. (1999). Fully mutated and gray-zone FRAXA alleles in Brazilian mentally retarded boys. American Journal of Medical Genetics, 84(3), 198-201.
27. Hagerman, P. J. (2002). Gene expression and molecular approaches to therapy. In R. J. Hagerman & P. J. Hagerman (Eds.), Fragile X syndrome: Diagnosis, treatment and research (3rd ed.). Baltimore, MD: The Johns Hopkins University Press.
28. Hagerman, R. J.; Leehey, M.; Heinrichs, W.; Tassone, F.; Wilson, R.; Hills, J.; et al. (2001). Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology, 57, 127-130.
29. Hagerman, R. J.; Rivera, S. M.; Hagerman, P. J. (2008). The fragile X family of disorders: A model for autism and targeted treatments. Current Pediatric Reviews, 4, 40-52.
30. Hall, D. A.; Berry-Kravis, E.; Zhang, W.; Tassone, F.; Spector, E.; Zerbe, G.; et al. (2011). FMR1 gray-zone alleles: association with Parkinson's disease in women? Movement Disorders: Official Journal of the Movement Disorder Society, 26(10), 1900-1906.
31. Harris, S. W.; Hessl, D.; Goodlin-Jones, B.; Ferranti, J.; Bacalman, S.; Barbato, I.; et al. (2008). Autism profiles of males with fragile X syndrome. American Journal of Mental Retardation, 113(6), 427-438.
32. Hatton, D.; Bailey, D. B.; Roberts, J.; Skinner, M.; Mayher, L.; Duffee Clark, R.; et al. (2000). Early intervention services for young boys with fragile X syndrome. Journal of Early Intervention, 23(4), 235-251.
33. Hatton, D. D.; Sideris, J.; Skinner, M.; Mankowski, J.; Bailey, D. B.; Jr, Roberts, J. E.; et al. (2006). Autistic behavior in children with fragile X syndrome: Prevalence, stability, and the impact of FMRP. American Journal of Medical Genetics, Part A, 140(17), 1804-1813.
34. Hecimovic, S.; Tarnik, I. P.; Baric, I.; Cakarun, Z.; Pavelic, K. (2002). Screening for fragile X syndrome: Results from a school for mentally retarded children. Acta Paediatrica, 91(5), 535-539.
35. Hertz-Picciotto, I.; Croen, L. A.; Hansen, R.; Jones, C. R.; van de Water, J.; Pessah, I. N. (2006). The CHARGE study: An epidemiologic investigation of genetic and environmental factors contributing to autism. Environmental Health Perspectives, 114(7), 1119-1125.
36. Hessl, D.; Tassone, F.; Loesch, D. Z.; Berry-Kravis, E.; Leehey, M. A.; Gane, L. W.; et al. (2005). Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation. American Journal of Medical Genetics Part B Neuropsychiatric Genetics, 139(1), 115-121.
37. Iong, K.; Tong, T.; Gane, L.; Sorensen, P.; Berry-Kravis, E.; Nguyen, D.; Mu, Y.; Skinner, D.; Bailey, D.; Hagerman, R.; Tassone, F. (2011). Newborn screening in fragile X syndrome: prevalence and allele distribution of the FMR1 gene. Paper presented at the American College Medical Genetics, Vancouver.
38. Jacquemont, S.; Hagerman, R. J.; Leehey, M.; Grigsby, J.; Zhang, L.; Brunberg, J. A.; et al. (2003). Fragile X premutation tremor/ataxia syndrome: Molecular, clinical, and neuroimaging correlates. American Journal of Human Genetics, 72(4), 869-878.
39. Kau, A. S. M.; Tierney, E.; Bukelis, I.; Stump, M. H.; Kates, W. R.; Trescher, W. H.; et al. (2004). Social behavior profile in young males with fragile X syndrome: Characteristics and specificity. American Journal of Medical Genetics, 126A, 9-17.
40. Lachiewicz, A. M.; Dawson, D. V. (1994). Behavior problems of young girls with fragile X syndrome: Factor scores on the Conners' Parent's Questionnaire. American Journal of Medical Genetics, 51(4), 364-369.
41. Lewis, P.; Abbeduto, L.; Murphy, M.; Richmond, E.; Giles, N.; Bruno, L.; et al. (2006). Cognitive, language and social-cognitive skills of individuals with fragile X syndrome with and without autism. Journal of Intellectual Disability Research, 50(Pt 7), 532-545.
42. Loesch, D. Z.; Bui, Q. M.; Dissanayake, C.; Clifford, S.; Gould, E.; Bulhak-Paterson, D.; et al. (2007). Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X. Neuroscience and Biobehavioral Reviews, 31(3), 315-326.
43. Loesch, D. Z.; Godler, D. E.; Khaniani, M.; Gould, E.; Gehling, F.; Dissanayake, C.; et al. (2009). Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: Preliminary data suggest an involvement of epigenetic mechanisms. American Journal of Medical Genetics, Part A, 149A(10), 2306-2310.
44. Lord, C.; Risi, S.; Lambrecht, L.; Cook, E. H.; Jr, Leventhal, B. L.; DiLavore, P. C.; et al. (2000). The Autism Diagnostic Observation Schedule-Generic: A standard measure of social and communication deficits associated with the spectrum of autism. Journal of Autism and Developmental Disorder, 30(3), 205-223.
45. Lord, C.; Rutter, M.; Le Couteur, A. (1994). Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. Journal of Autism and Developmental Disorders, 24(5), 659-685.
46. Maddalena, A.; Richards, C. S.; McGinniss, M. J.; Brothman, A.; Desnick, R. J.; Grier, R. E.; et al. (2001). Technical standards and guidelines for fragile X: The first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of the Laboratory Practice Committee. Genetic Medicine, 3(3), 200-205.
47. Major, T.; Culjkovic, B.; Stojkovic, O.; Gucscekic, M.; Lakic, A.; Romac, S. (2003). Prevalence of the fragile X syndrome in Yugoslav patients with non-specific mental retardation. Journal of Neurogenetics, 17(2-3), 223-230.
48. Mazzocco, M. M.; Kates, W. R.; Baumgardner, T. L.; Freund, L. S.; Reiss, A. L. (1997). Autistic behaviors among girls with fragile X syndrome. Journal of Autism and Developmental Disorder, 27(4), 415-435.
49. Mila, M.; Sanchez, A.; Badenas, C.; Brun, C.; Jimenez, D.; Villa, M. P.; et al. (1997). Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: Identification of a case of FRAXE-associated mental retardation. Human Genetics, 100, 503-507.
50. Miller, L. J.; McIntosh, D. N.; McGrath, J.; Shyu, V.; Lampe, M.; Taylor, A. K.; et al. (1999). Electrodermal responses to sensory stimuli in individuals with fragile X syndrome: A preliminary report. American Journal of Medical Genetics, 83(4), 268-279.
51. Mullen, E. M. (1995). Mullen Scales of Early Learning. Circle Pines: American Guidance Service.
52. Murray, A.; Youings, S.; Dennis, N.; Latsky, L.; Linehan, P.; McKechnie, N.; et al. (1996). Population screening at the FRAXA and FRAXE loci: Molecular analyses of boys with learning difficulties and their mothers. Human Molecular Genetics, 5(6), 727-735.
53. Pandey, U. B.; Phadke, S.; Mittal, B. (2002). Molecular screening of FRAXA and FRAXE in Indian patients with unexplained mental retardation. Genetic Testing, 6(4), 335-339.
54. Patsalis, P. C.; Sismani, C.; Hettinger, J. A.; Boumba, I.; Georgiou, I.; Stylianidou, G.; et al. (1999). Molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: incidence, genetic variation, and stability. American Journal of Medical Genetics, 84(3), 184-190.
55. Pieretti, M.; Zhang, F. P.; Fu, Y. H.; Warren, S. T.; Oostra, B. A.; Caskey, C. T.; et al. (1991). Absence of expression of the FMR-1 gene in fragile X syndrome. Cell, 66(4), 817-822.
56. Pouya, A. R.; Abedini, S. S.; Mansoorian, N.; Behjati, F.; Nikzat, N.; Mohseni, M.; et al. (2009). Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the Iranian population. European Journal of Medical Genetics, 52(4), 170-173.
57. Reddy, K. S. (2005). Cytogenetic abnormalities and fragile-X syndrome in Autism Spectrum Disorder. BMC Medical Genetics, 6(1), 3.
58. Roberts, J. E.; Bailey, D. B.; Jr, Mankowski, J.; Ford, A.; Sideris, J.; Weisenfeld, L. A.; et al. (2009). Mood and anxiety disorders in females with the FMR1 premutation. American Journal of Medical Genetics, Part B Neuropsychiatric Genetics, 150B(1), 130-139.
59. Rogers, S. J.; Wehner, E. A.; Hagerman, R. J. (2001). The behavioral phenotype in fragile X: Symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders. Journal of Developmental and Behavioral Pediatrics, 22(6), 409-417.
60. Rousseau, F.; Rouillard, P.; Morel, M. L.; Khandjian, E. W.; Morgan, K. (1995). Prevalence of carriers of premutation-size alleles of the FMRI gene - and implications for the population genetics of the fragile X syndrome. American Journal of Human Genetics, 57(5), 1006-1018.
61. Rutter, M.; Bailey, A.; Berument, S. K.; Lord, C.; Pickles, A. (2003). Social Communication Questionnaire (SCQ). Los Angeles: Western Psychological Services.
62. Schaefer, G. B.; Lutz, R. E. (2006). Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders. Genetic Medicine, 8(9), 549-556.
63. Sharma, D.; Gupta, M.; Thelma, B. K. (2001). Expansion mutation frequency and CGG/GCC repeat polymorphism in FMR1 and FMR2 genes in an Indian population. Genetic Epidemiology, 20(1), 129-144.
64. Sherman, S. L. (2000). Premature ovarian failure in the fragile X syndrome. American Journal of Medical Genetics (Seminars in Medical Genetics), 97(3), 189-194.
65. Sparrow, S. S.; Balla, D. A.; Cicchetti, D. V. (1984). Vineland Adaptive Behavior Scales Survey Form Manual. Circle Pines: American Guidance Service.
66. Sudhalter, V.; Cohen, I. L.; Silverman, W.; Wolf-Schein, E. G. (1990). Conversational analyses of males with fragile X, Down syndrome, and autism: Comparison of the emergence of deviant language. American Journal of Mental Retardation, 94(4), 431-441.
67. Sullivan, A. K.; Crawford, D. C.; Scott, E. H.; Leslie, M. L.; Sherman, S. L. (2002). Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range. American Journal of Human Genetics, 70(6), 1532-1544.
68. Sullivan, A. K.; Marcus, M.; Epstein, M. P.; Allen, E. G.; Anido, A. E.; Paquin, J. J.; et al. (2005). Association of FMR1 repeat size with ovarian dysfunction. Human Reproduction, 20(2), 402-412.
69. Syrrou, M.; Georgiou, I.; Grigoriadou, M.; Petersen, M. B.; Kitsiou, S.; Pagoulatos, G.; et al. (1998). FRAXA and FRAXE prevalence in patients with nonspecific mental retardation in the Hellenic population. Genetic Epidemiology, 15(1), 103-109.
70. Tassone, F.; Hagerman, R. J.; Chamberlain, W. D.; Hagerman, P. J. (2000). Transcription of the FMR1 gene in individuals with fragile X syndrome. American Journal of Medical Genetics (Seminars in Medical Genetics), 97(3), 195-203.
71. Tassone, F.; Pan, R.; Amiri, K.; Taylor, A. K.; Hagerman, P. J. (2008). A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations. Journal of Molecular Diagnostics, 10(1), 43-49.
72. Toledano-Alhadef, H.; Basel-Vanagaite, L.; Magal, N.; Davidov, B.; Ehrlich, S.; Drasinover, V.; et al. (2001). Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel. American Journal of Human Genetics, 69(2), 351-360.
73. Verkerk, A. J.; Pieretti, M.; Sutcliffe, J. S.; Fu, Y. H.; Kuhl, D. P.; Pizzuti, A.; et al. (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(5), 905-914.
74. Watson, M. S.; Breg, W. R.; Hobbins, J. C.; Mahoney, M. J. (1984). Cytogenetic diagnosis using midtrimester fetal blood samples: Application to suspected mosaicism and other diagnostic problems. American Journal of Medical Genetics, 19(4), 805-813.
75. Wittenberger, M. D.; Hagerman, R. J.; Sherman, S. L.; McConkie-Rosell, A.; Welt, C. K.; Rebar, R. W.; et al. (2007). The FMR1 premutation and reproduction. Fertility and Sterility, 87(3), 456-465.
76. Yrigollen, C. M.; Durbin-Johnson, B.; Gane, L.; Nelson, D. L.; Hagerman, R.; Hagerman, P. J.; Tassone, F. (2012). AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome. Genetics in Medicine. doi: 10.1038/gim.2012.34
77. Yrigollen, C. M.; Tassone, F.; Durbin-Johnson, B. (2011). The role of AGG interruptions in the transcription of FMR1 premutation alleles. PLoS One, 6(7), e21728.
78. Yu, S.; Pritchard, M.; Kremer, E.; Lynch, M.; Nancarrow, J.; Baker, E.; et al. (1991). Fragile X genotype characterized by an unstable region of DNA. Science, 252(5010), 1179-1181.
79. Yuhas, J.; Walichiewicz, P.; Pan, R.; Zhang, W.; Casillas, E. M.; Hagerman, R. J.; et al. (2009). High-risk fragile x screening in Guatemala: Use of a new blood spot polymerase chain reaction technique. Genetic Testing and Molecular Biomarkers, 13(6), 855-859.