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; Eleanor Hammersley; Andrea Lauren Christman Schneider; Elsdon Storey; Paige Stimpson; Trent Burgess; David Francis; Howard 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
, Eleanor Hammersley
, Andrea Lauren Christman Schneider
, Elsdon Storey
, Paige Stimpson
, Trent Burgess
, David Francis
, Howard Slater
, Flora Tassone
, Randi J Hagerman
, David R Hessl

Department of Neuroscience

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

42 Citations (Scopus)

Abstract

We utilized a sample of 299 adult females aged between 19 and 86 years, 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
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
Publication status	Published - 2015

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10.1111/cge.12347

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Loesch, D. Z., Bui, M. Q., Hammersley, E., Schneider, A. L. C., 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

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abstract = "We utilized a sample of 299 adult females aged between 19 and 86 years, 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.",

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doi = "10.1111/cge.12347",

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AU - Schneider, Andrea Lauren Christman

AU - Storey, Elsdon

AU - Stimpson, Paige

AU - Burgess, Trent

AU - Francis, David

AU - Slater, Howard

AU - Tassone, Flora

AU - Hagerman, Randi J

AU - Hessl, David R

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JO - Clinical Genetics

JF - Clinical Genetics

IS - 2

ER -

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

Abstract

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