Human Molecular Genetics, Vol 6, 877-880, Copyright © 1997 by Oxford University Press
L Martorell, K Johnson, CA Boucher and M Baiget
Myotonic dystrophy is characterised by the striking level of somatic
heterogeneity seen between and within tissues of the same patient, which
probably accounts for a significant proportion of the pleiotropy associated
with this disorder. The congenital form of the disease is associated with
the largest (CTG)n repeat expansions. We have investigated the timing of
instability of myotonic dystrophy (CTG)n repeats in a series of
congenitally affected fetuses and neonates. We find that during the first
trimester the repeat is apparently stable and that instability only becomes
detectable during the second and third trimesters. In our series repeat
instability is apparent only after 13 weeks gestational age and before 16
weeks. The appearance of heterogeneity shows some tissue specificity, with
heart most commonly having the largest expansion. The degree of
heterogeneity is not correlated with initial expansion size as gauged by
chorionic villus and blood (CTG)n repeat sizes.
ARTICLES
Somatic instability of the myotonic dystrophy (CTG)n repeat during human fetal development
Unitat de Genetica Molecular, Hospital Sant Pau, Barcelona, Spain.
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