Co-occurring diagnoses among FMR1 premutation allele carriers

Clinical Genetics

Volumn 77, Issue 4, 2010, Pages 374-381

  Hunter, J E ^a   Rohr, J K ^a   Sherman, S L ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

CGG repeat; FMR1; Fragile X syndrome; FXPOI; FXTAS; Premutation

Indexed keywords

AMPHETAMINE; ATOMOXETINE; CITALOPRAM; FLUOXETINE; FRAGILE X MENTAL RETARDATION PROTEIN; METHYLPHENIDATE; VENLAFAXINE;

ADULT; ANXIETY DISORDER; ARTICLE; ATTENTION DEFICIT DISORDER; DEPRESSION; FEMALE; FRAGILE X ASSOCIATED PRIMARY OVARY INSUFFICIENCY; GENE MUTATION; HUMAN; LEARNING DISORDER; MAJOR CLINICAL STUDY; MALE; OVARY INSUFFICIENCY; PREMUTATION; PRIORITY JOURNAL; SELF REPORT; SEX DIFFERENCE; THYROID DISEASE; TRINUCLEOTIDE REPEAT;

ADOLESCENT; ADULT; ALLELES; COMORBIDITY; DEMOGRAPHY; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MODELS, GENETIC; MUTATION; OVARIAN DISEASES; YOUNG ADULT;

EID: 77951758220     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01317.x     Document Type: Article

References (32)

1. Verkerk AJ, Pieretti M, Sutcliffe JS. 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.
2. Fu YH, Kuhl DP, Pizzuti A. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 1991, 67:1047-1058.
3. Yu S, Pritchard M, Kremer E. Fragile X genotype characterized by an unstable region of DNA. Science 1991, 252:1179-1181.
4. Ashley CT, Sutcliffe JS, Kunst CB. Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG-repeat. Nat Genet 1993, 4:244-251.
5. Primerano B, Tassone F, Hagerman RJ. Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations. RNA 2002, 8:1482-1488.
6. Tassone F, Hagerman RJ, Taylor AK. Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. Am J Hum Genet 2000, 66:6-15.
7. Tassone F, Hagerman RJ, Taylor AK. Clinical involvement and protein expression in individuals with the FMR1 premutation. Am J Med Genet 2000, 91:144-152.
8. Kenneson A, Zhang F, Hagedorn CH. Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Hum Mol Genet 2001, 10:1449-1454.
9. Tassone F, Hagerman PJ. Expression of the FMR1 gene. Cytogenet Genome Res 2003, 100:124-128.
10. Tassone F, Beilina A, Carosi C. Elevated FMR1 mRNA in premutation carriers is due to increased transcription. RNA 2007, 13:555-562.
11. Sherman SL. Premature ovarian failure in the fragile X syndrome. Am J Med Genet 2000, 97:189-194.
12. Welt CK. Primary ovarian insufficiency: a more accurate term for premature ovarian failure. Clin Endocrinol (Oxf) 2008, 68:499-509.
13. Jacquemont S, Hagerman RJ, Leehey M. Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet 2003, 72:869-878.
14. Hagerman RJ, Leehey M, Heinrichs W. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 2001, 57:127-130.
15. Hagerman PJ, Hagerman RJ. The fragile-X premutation: a maturing perspective. Am J Hum Genet 2004, 74:805-816.
16. Hunter JE, Abramowitz A, Rusin M. Is there evidence for neuropsychological and neurobehavioral phenotypes among adults without FXTAS who carry the FMR1 premutation? A review of current literature. Genet Med 2009, 11:79-89.
17. Coffey SM, Cook K, Tartaglia N. Expanded clinical phenotype of women with the FMR1 premutation. Am J Med Genet A 2008, 146A:1009-1016.
18. Rodriguez-Revenga L, Madrigal I, Pagonabarraga J. Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families. Eur J Hum Genet 2009, 10:1359-1362.
19. Hunter JE, Allen EG, Abramowitz A. Investigation of phenotypes associated with mood and anxiety among male and female fragile x premutation carriers. Behav Genet 2008, 38:493-502.
20. Hunter JE, Allen EG, Abramowitz A. No evidence for a difference in neuropsychological profile among carriers and noncarriers of the FMR1 premutation in adults under the age of 50. Am J Hum Genet 2008, 83:692-702.
21. Allen EG, Sherman S, Abramowitz A. Examination of the effect of the polymorphic CGG repeat in the FMR1 gene on cognitive performance. Behav Genet 2005, 35:435-445.
22. Soules MR, Sherman S, Parrott E. Executive summary: Stages of Reproductive Aging Workshop (STRAW). Fertil Steril 2001, 76:874-878.
23. Popat VB, Prodanov T, Calis KA. The menstrual cycle: a biological marker of general health in adolescents. Ann N Y Acad Sci 2008, 1135:43-51.
24. Zeger SL, Liang KY. Longitudinal data analysis for discrete and continuous outcomes. Biometrics 1986, 42:121-130.
25. Meadows KL, Pettay D, Newman J. Survey of the fragile X syndrome and the fragile X E syndrome in a special education needs population. Am J Med Genet 1996, 64:428-433.
26. Brown WT, Houck GE, Jeziorowska A. Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test. JAMA 1993, 270:1569-1575.
27. Hundscheid RD, Smits AP, Thomas CM. Female carriers of fragile X premutations have no increased risk for additional diseases other than premature ovarian failure. Am J Med Genet A 2003, 117:6-9.
28. Carta MG, Loviselli A, Hardoy MC. The link between thyroid autoimmunity (antithyroid peroxidase autoantibodies) with anxiety and mood disorders in the community: a field of interest for public health in the future. BMC Psychiatry 2004, 4:25.
29. Redmond GP. Thyroid dysfunction and women's reproductive health. Thyroid 2004, 14((Suppl. 1)):S5-15.
30. Kogan CS, Turk J, Hagerman RJ. Impact of the Fragile X mental retardation 1 (FMR1) gene premutation on neuropsychiatric functioning in adult males without fragile X-associated Tremor/Ataxia syndrome: a controlled study. Am J Med Genet B Neuropsychiatr Genet 2008, 147B:859-872.
31. Constant EL, Adam S, Seron X. Anxiety and depression, attention, and executive functions in hypothyroidism. J Int Neuropsychol Soc 2005, 11:535-544.
32. Larisch R, Kley K, Nikolaus S. Depression and anxiety in different thyroid function states. Horm Metab Res 2004, 36:650-653.