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© 1993 Oxford University Press

RESEARCH-ARTICLE

Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele

Hélène Hofmann-Radvanyi1,2, Christian Lavedan1, Jean-Pierre Rabès1, Daniel Savoy1, Chantal Duros1, Keith Johnson3 and Claudine Junien1,2,*

1INSERM U73, Chateau de Longchamp, Bois de Boulogne 75016 Paris 2Hopital Ambroise Paré Boulogne 92100, France 3Department of Anatomy, Charing Cross and Westminster Medical School London W6 8RF, UK

*To whom correspondence should be addressed at: INSERM U73, Château de Longchamp, Bois de Boulogne, 75016 Paris, France

Received October 16, 1992; Revised May 19, 1993; Accepted May 19, 1993

Myotonic dystrophy (DM) is an autosomal dominant neuromuscular disease. The mutation has been identified as an unstable trinucleotide CTG repeat in a sequence encoding a putative cAMP-dependent protein kinase. The CTG repeat varies in length between affected siblings, and generally increases through generations in parallel with increasing severity of the disease. Congenital myotonic dystrophy, which represents the most severe phenotype, is exclusively maternally inherited. In this report, we show, by Northern blot analysis, that no mutated enlarged transcript is detectable in a 20-week-old DM fetus and in two congenitally affected infants. Furthermore, in skeletal and cardiac muscle of the DM fetus, we observe by RNA analysis, including Norhern blot and RT-PCR, an unexpectedly low expression of the paternal wild type allele. Varying degrees of expression of the mutant and/or the normal allele might therefore account for the characteristic features of the congenital form and the extreme variability of the disease.


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