Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion

D. Z. Loesch; M. Q. Bui; E. Hammersley; A. Schneider; E. Storey; P. Stimpson; T. Burgess; D. Francis; H. Slater; Flora Tassone; Randi J Hagerman; David R Hessl

doi:10.1111/cge.12347

Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion

D. Z. Loesch, M. Q. Bui, E. Hammersley, A. Schneider, E. Storey, P. Stimpson, T. Burgess, D. Francis, H. Slater, Flora Tassone, Randi J Hagerman, David R Hessl

Research output: Contribution to journal › Article › peer-review

25 Scopus citations

Abstract

We utilized a sample of 299 adult females aged between 19 and 86years, carrying fragile X mental retardation (FMR1) alleles with small CCG expansions ranging from 50 to 141 repeats to analyse the relationships between psychological symptoms as assessed by the Symptom Checklist-90-Revised (SCL-90-R) and the size of the CGG repeat in the FMR1 gene. There were highly significant (negative) correlations between the size of the CGG repeat and a great majority of SCL-90-R subscale scores and all the global indices, suggesting that carriers of premutations in the mid-size CGG repeat range may be at greatest risk for the development of psychiatric disorder.

Original language	English (US)
Pages (from-to)	173-178
Number of pages	6
Journal	Clinical Genetics
Volume	87
Issue number	2
DOIs	https://doi.org/10.1111/cge.12347
State	Published - Feb 1 2015

Keywords

CGG repeat size
FMR1 premutation
Premutation female carriers
Psychological symptoms
Regression analysis

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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Loesch, D. Z., Bui, M. Q., Hammersley, E., Schneider, A., Storey, E., Stimpson, P., Burgess, T., Francis, D., Slater, H., Tassone, F., Hagerman, R. J., & Hessl, D. R. (2015). Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion. Clinical Genetics, 87(2), 173-178. https://doi.org/10.1111/cge.12347

Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion. / Loesch, D. Z.; Bui, M. Q.; Hammersley, E.; Schneider, A.; Storey, E.; Stimpson, P.; Burgess, T.; Francis, D.; Slater, H.; Tassone, Flora ; Hagerman, Randi J ; Hessl, David R.

In: Clinical Genetics, Vol. 87, No. 2, 01.02.2015, p. 173-178.

Research output: Contribution to journal › Article › peer-review

Loesch, D. Z. ; Bui, M. Q. ; Hammersley, E. ; Schneider, A. ; Storey, E. ; Stimpson, P. ; Burgess, T. ; Francis, D. ; Slater, H. ; Tassone, Flora ; Hagerman, Randi J ; Hessl, David R. / Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion. In: Clinical Genetics. 2015 ; Vol. 87, No. 2. pp. 173-178.

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