Mosaicism for the FMR1 gene influences adaptive skills development in fragile X-affected males

American Journal of Medical Genetics

Volumn 64, Issue 2, 1996, Pages 365-369

  Cohen, Ira L ^a   Nolin, Sarah L ^a   Sudhalter, Vicki ^a   Ding, Xiao Hua ^a   Dobkin, Carl S ^a   Brown, W Ted ^a  

^a NEW YORK STATE INSTITUTE FOR BASIC RESEARCH IN DEVELOPMENTAL DISABILITIES   (United States)

Author keywords

adaptive functioning; autism; fragile X syndrome; mosaicism

Indexed keywords

ADAPTATION; ADOLESCENT; ARTICLE; AUTISM; CHILD; CHILD DEVELOPMENT; CLINICAL ARTICLE; FRAGILE X SYNDROME; GENE MUTATION; HUMAN; MALE; MENTAL DEFICIENCY; MOSAICISM; MOTOR PERFORMANCE; PHENOTYPE; PRIORITY JOURNAL; SKILL; SUBSTITUTION THERAPY;

ADOLESCENT; ADULT; CHILD; CHILD DEVELOPMENT; CHILD, PRESCHOOL; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; HUMANS; INFANT; MALE; MOSAICISM; NERVE TISSUE PROTEINS; REGRESSION ANALYSIS; RNA-BINDING PROTEINS; SOCIAL BEHAVIOR;

EID: 0029943226     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960809)64:2<365::AID-AJMG26>3.0.CO;2-C     Document Type: Article

References (21)

1. American Psychiatric Association (1987): "Diagnostic and Statistical Manual of Mental Disorders," (3rd ed., revised.) Washington, DC: APA, pp 33-39.
2. Ashley CT, Wilkinson KD, Reines D, Warren ST (1993): FMR1 protein: Conserved RNP family domains and selective RNA binding. Science 262:563-566.
3. Belser RC, Sudhalter V (1995): Arousal difficulties in males with fragile X syndrome: A preliminary report. Dev Brain Dys 8:270-279.
4. Brown WT, Jenkins EC (1992): The fragile X syndrome. Mol Genet Med 2:39-66.
5. Brown WT, Houck GE, Jeziorowska A, Levinson FN, Ding X, Dobkin C, Zhong N, Henderson J, Sklower Brooks S, Jenkins E (1993): Fragile X carrier screening and prenatal diagnosis using a rapid, non-radioactive PCR test. JAMA 270:1569-1575.
6. Cohen IL, Fisch GS, Sudhalter V, Wolf-Schein EG, Hanson D, Hagerman R, Jenkins EC, Brown WT (1988): Social gaze, social avoidance and repetitive behavior in fragile X males: A controlled study. Am J Ment Retard 92:436-446.
7. 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 30:845-356.
8. Cohen IL, Vietze P, Sudhalter V, Jenkins EC, Brown WT (1991): Effects of age and communication level on eye contact in fragile X males and nonfragile X autistic males. Am J Med Genet 38:498-502.
9. De Boulle KD, Verkerk AJMH, Reyniers E, Vits L, Hendrickx J, Van Roy B, Van Den Bos B, de Graaf E, Oostra BA, Willems PJ (1993): A point mutation in the FMR-1 gene associated with fragile X mental retardation. Nat Genet 3:31-35.
10. DeVries BBA, Wiegers AM, de Graaf E, Verkerk AJMH, Van Kernel JO, Halley DJJ, Fryns J-P, Curfs LMG, Niermeijer MF, Oostra BA (1993): Mental status and fragile X expression in relation to FMR-1 gene mutation. Eur J Hum Genet 1:72-79.
11. Dobkin CS, Nolin, SL, Cohen IL, Sudhalter VS, Bialer MG, Ding X-H, Jenkins EC, Zhong N, Brown WT (1996): Tissue differences in fragile X mosaics: Mosaicism in blood cells may differ greatly from skin. Am J Med Genet 64:296-301.
12. Dykens E, Hodapp RM, Ort SI, Leekman JF (1993): Trajectory of adaptive behavior in males with fragile X syndrome. J Autism Dev Disord 23:135-145.
13. Fu Y-H, Kuhl DPA, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJMH, Holden JJA, Fenwick RG, Jr, Warren ST, Oostra AA, Nelson DL, Caskey CT (1991): Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox. Cell 67:1047-1058.
14. Lachiewicz A, Gullian C, Spridigliozzi G, Aylsworth A (1987): Declining IQs of young males with the fragile X syndrome. Am J Ment Retard 92:272-278.
15. McConkie-Rosell A, Lachiewicz AM, Spiridigliozi GA, Tarleton J, Schoenwald S, Phelan MC, Goonewarenda P, Ding X, Brown WT (1993): Evidence that methylation of the FMR-1 locus is responsible for variable phenotypic expression of the fragile X syndrome. Am J Hum Genet 53:800-809.
16. Nolin SL, Glicksman A, Houck GE, Brown WT, Dobkin CT (1994): Mosacism in fragile X affected males. Am J Med Genet 51:509-512.
17. Pieretti M, Zhang F, Fu Y-H, Warren ST, Oostra BA, Caskey CT, Nelson DL (1991): Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 66:817-822.
18. 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 (1993): A multicenter study on geneotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: The first 2253 cases. Am J Hum Genet 55:225-237.
19. Silverstein AB (1986): Nonstandard standard scores on the Vineland Adaptive Behavior Scales. A cautionary note. Am J Ment Defic 91:1-4.
20. Sparrow SS, Balla DA, Cicchetti DV (1984): "Vineland Adaptive Behavior Scales. Interview Edition. Survey Form Manual." Circle Pines, MN: American Guidance.
21. Verheij C, Bakker CE, de Graaf B, Kuelemans J, Willemsen R, Verkerk AJMH, Galjaard H, Reuser AJJ, Hoogeveen AT, Oostra BA (1993): Characterization and localization of the FMR-1 gene product associated with fragile X syndrome. Nature 363:722-724.