An investigation of FRAXA intermediate allele phenotype in a longitudinal sample.

Annals of Human Genetics
S EnnisP Jacobs

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.

References

May 23, 1995·Proceedings of the National Academy of Sciences of the United States of America·A MorrisS Sherman
Jul 1, 1997·Journal of Child Psychology and Psychiatry, and Allied Disciplines·R Goodman
Feb 12, 1998·Journal of Developmental and Behavioral Pediatrics : JDBP·M M MazzoccoA L Reiss
Jan 22, 1998·Proceedings of the National Academy of Sciences of the United States of America·J W TeagueP A Jacobs
Feb 5, 1999·Journal of Autism and Developmental Disorders·D B BaileyL Mayhew
Jan 13, 2000·American Journal of Human Genetics·F TassoneP J Hagerman
Jun 14, 2000·Journal of Medical Genetics·S A YouingsP Jacobs
Jun 15, 2000·European Journal of Human Genetics : EJHG·A MurrayN E Morton
Sep 12, 2000·European Journal of Human Genetics : EJHG·R W JonesUNKNOWN ALSPAC Study Team
Mar 10, 2001·Paediatric and Perinatal Epidemiology·J GoldingUNKNOWN ALSPAC Study Team
Apr 6, 2004·American Journal of Human Genetics·R J HagermanP J Hagerman

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Citations

Jul 17, 2012·Journal of Genetic Counseling·Brenda FinucaneAllyn McConkie-Rosell
Jan 2, 2007·Experimental and Molecular Pathology·Bruna P BrylawskiDavid G Kaufman
May 14, 2011·Movement Disorders : Official Journal of the Movement Disorder Society·Deborah A HallMaureen A Leehey
Dec 14, 2011·Movement Disorders : Official Journal of the Movement Disorder Society·Deborah HallMaureen Leehey
Aug 20, 2015·PloS One·Lindsey I SinclairGlyn Lewis
Dec 15, 2006·Lancet Neurology·Sebastien JacquemontMaureen A Leehey
Jun 16, 2017·Clinical Genetics·M MilaL Rodriguez-Revenga

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