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

Danuta Z Loesch; Minh 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

Danuta Z Loesch, Minh 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

29 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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Loesch, D. Z., Bui, M., 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

Loesch, Danuta Z ; Bui, Minh ; Hammersley, Eleanor ; Schneider, Andrea Lauren Christman ; Storey, Elsdon ; Stimpson, Paige ; Burgess, Trent ; Francis, David ; Slater, Howard ; 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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title = "Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion",

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.",

author = "Loesch, {Danuta Z} and Minh Bui and Eleanor Hammersley and Schneider, {Andrea Lauren Christman} and Elsdon Storey and Paige Stimpson and Trent Burgess and David Francis and Howard Slater and Flora Tassone and Hagerman, {Randi J} and Hessl, {David R}",

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doi = "10.1111/cge.12347",

language = "English",

volume = "87",

pages = "173 -- 178",

journal = "Clinical Genetics",

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Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion. / Loesch, Danuta Z; Bui, Minh; Hammersley, Eleanor; Schneider, Andrea Lauren Christman; Storey, Elsdon; Stimpson, Paige; Burgess, Trent; Francis, David; Slater, Howard; Tassone, Flora; Hagerman, Randi J; Hessl, David R.

In: Clinical Genetics, Vol. 87, No. 2, 2015, p. 173 - 178.

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

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AU - Loesch, Danuta Z

AU - Bui, Minh

AU - Hammersley, Eleanor

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

PY - 2015

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AB - 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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DO - 10.1111/cge.12347

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JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

IS - 2

ER -

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

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