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An investigation of FRAXA intermediate allele phenotype in a longitudinal sample

An investigation of FRAXA intermediate allele phenotype in a longitudinal sample
An investigation of FRAXA intermediate allele phenotype in a longitudinal sample
The FRAXA trinucleotide repeat at Xq27.3 gives rise to fragile X syndrome when fully expanded, and both premature ovarian failure (POF) and fragile X tremor and ataxia syndrome (FXTAS) when in the premutation range. Reports of phenotypic effects extending into the intermediate repeat range are inconsistent but some studies suggest that these smaller expansions predispose to special educational needs (SEN). This study utilises the Avon Longitudinal Study of Parents and Children (ALSPAC) cohort to investigate cognitive and behavioural variables that might be associated with FRAXA intermediate alleles. The current study failed to find any strong evidence of association of FRAXA intermediate alleles with SEN, behavioural problems or cognitive difficulties. However, our findings illustrate some of the difficulties encountered in identifying individuals with SEN. The power to identify specific components of cognitive and behavioural difficulties was reduced due to elective drop-out, which is characteristic of longitudinal studies. Our findings demonstrate the non-random loss of participants from this cohort and highlight problems that may arise when such data are used in genetic association studies
protein, alleles, research, male, human, syndrome, ataxia, parents, cohort, mental retardation, epidemiology, research support, fragile x syndrome, fragile x mental retardation protein, phenotype, longitudinal studies, genetics, humans, report
0003-4800
170-180
Ennis, S.
7b57f188-9d91-4beb-b217-09856146f1e9
Murray, A.
d80b2bea-5bde-448f-a1d2-c5627db1df99
Youings, S.
ba64e5f7-1005-45ca-ba04-2ea40894b08a
Brightwell, G.
d017b8fa-1d46-42ac-91ec-5daf9535c527
Herrick, D.
1c06ad12-5f6b-4062-8899-7a21f79ccd3f
Ring, S.
e19e1875-ffd0-4499-87f2-55ea20579115
Pembrey, M.
21d31dfc-3cb1-45a9-afcf-28d88b282687
Morton, N.E.
c668e2be-074a-4a0a-a2ca-e8f51830ebb7
Jacobs, P. A.
b266ce7f-f74a-4480-9923-23109bb1b63f
Ennis, S.
7b57f188-9d91-4beb-b217-09856146f1e9
Murray, A.
d80b2bea-5bde-448f-a1d2-c5627db1df99
Youings, S.
ba64e5f7-1005-45ca-ba04-2ea40894b08a
Brightwell, G.
d017b8fa-1d46-42ac-91ec-5daf9535c527
Herrick, D.
1c06ad12-5f6b-4062-8899-7a21f79ccd3f
Ring, S.
e19e1875-ffd0-4499-87f2-55ea20579115
Pembrey, M.
21d31dfc-3cb1-45a9-afcf-28d88b282687
Morton, N.E.
c668e2be-074a-4a0a-a2ca-e8f51830ebb7
Jacobs, P. A.
b266ce7f-f74a-4480-9923-23109bb1b63f

Ennis, S., Murray, A., Youings, S., Brightwell, G., Herrick, D., Ring, S., Pembrey, M., Morton, N.E. and Jacobs, P. A. (2006) An investigation of FRAXA intermediate allele phenotype in a longitudinal sample. Annals of Human Genetics, 70 (2), 170-180. (doi:10.1111/j.1529-8817.2005.00220.x).

Record type: Article

Abstract

The FRAXA trinucleotide repeat at Xq27.3 gives rise to fragile X syndrome when fully expanded, and both premature ovarian failure (POF) and fragile X tremor and ataxia syndrome (FXTAS) when in the premutation range. Reports of phenotypic effects extending into the intermediate repeat range are inconsistent but some studies suggest that these smaller expansions predispose to special educational needs (SEN). This study utilises the Avon Longitudinal Study of Parents and Children (ALSPAC) cohort to investigate cognitive and behavioural variables that might be associated with FRAXA intermediate alleles. The current study failed to find any strong evidence of association of FRAXA intermediate alleles with SEN, behavioural problems or cognitive difficulties. However, our findings illustrate some of the difficulties encountered in identifying individuals with SEN. The power to identify specific components of cognitive and behavioural difficulties was reduced due to elective drop-out, which is characteristic of longitudinal studies. Our findings demonstrate the non-random loss of participants from this cohort and highlight problems that may arise when such data are used in genetic association studies

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More information

Published date: March 2006
Keywords: protein, alleles, research, male, human, syndrome, ataxia, parents, cohort, mental retardation, epidemiology, research support, fragile x syndrome, fragile x mental retardation protein, phenotype, longitudinal studies, genetics, humans, report

Identifiers

Local EPrints ID: 59707
URI: http://eprints.soton.ac.uk/id/eprint/59707
ISSN: 0003-4800
PURE UUID: 53e6d812-0434-4afd-99b8-ecac5b3002fb
ORCID for S. Ennis: ORCID iD orcid.org/0000-0003-2648-0869

Catalogue record

Date deposited: 05 Sep 2008
Last modified: 16 Mar 2024 03:07

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Contributors

Author: S. Ennis ORCID iD
Author: A. Murray
Author: S. Youings
Author: G. Brightwell
Author: D. Herrick
Author: S. Ring
Author: M. Pembrey
Author: N.E. Morton
Author: P. A. Jacobs

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