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a Wessex Regional
Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire
SP2 8BJ, UK, b Department of Human Genetics, University of
Southampton Medical School, Duthie Building, Southampton General
Hospital, Tremona Road, Southampton, Hants SO16 6YD, UK
Correspondence to: S Youings, wessex.genetics{at}dial.pipex.com
Revised version received 16 December 1999;
Accepted for publication 11 January
2000
We report the results of a five year survey of FRAXA and FRAXE
mutations among boys aged 5 to 18 with special educational needs (SEN)
related to learning disability. We tested their mothers using the X
chromosome not transmitted to the son as a control chromosome, and the
X chromosome inherited by the son to provide information on stability
of transmission. We tested 3738 boys and 2968 mothers and found 20 FRAXA and one FRAXE full mutations among the boys and none among the
mothers. This gives an estimated prevalence of full mutations in males
of 1 in 5530 for FRAXA and 1 in 23 423 for FRAXE.
We found an excess of intermediate and premutation alleles for both
FRAXA and FRAXE. For FRAXA this was significant at the 0.001 level but
the excess for FRAXE was significant only at the 0.03 level. We
conclude that the excess of intermediate and premutation sized alleles
for FRAXA may well be a contributing factor to the boys' mental
impairment, while that for FRAXE may be a chance finding.
We studied approximately 3000 transmissions from mother to son and
found five instabilities of FRAXA in the common or intermediate range
and three instabilities of FRAXE in the intermediate range. Thus
instabilities in trinucleotide repeat size for FRAXA and FRAXE are
rare, especially among alleles in the common size range.
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