Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy

Tetsuo Ashizawa, M. Anvret, M. Baiget, J. M. Barceló, H. Brunner, A. M. Cobo, B. Dallapiccola, R. G. Fenwick, U. Grandell, H. Harley, C. Junien, M. C. Koch, R. G. Korneluk, C. Lavedan, T. Miki, J. C. Mulley, A. De López Munain, G. Novelli, A. D. Roses, W. K. SeltzerD. J. Shaw, H. Smeets, G. R. Sutherland, H. Yamagata, P. S. Harper

Research output: Contribution to journalArticlepeer-review

Abstract

In myotonic dystrophy (DM), the size of a CTG repeat in the DM kinase gene generally increases in successive generations with clinical evidence of anticipation. However, there have also been cases with an intergenerational contraction of the repeat. We examined 1,489 DM parent-offspring pairs, of which 95 (6.4%) showed such contractions in peripheral blood leukocytes (PBL). In 56 of the 95 pairs, clinical data allowed an analysis of their anticipation status. It is surprising that anticipation occurred in 27 (48%) of these 56 pairs, while none clearly showed a later onset of DM in the symptomatic offspring. The contraction occurred in 76 (10%) of 753 paternal transmissions and in 19 (3%) of 736 maternal transmissions. Anticipation was observed more frequently in maternal (85%) than in paternal (37%) transmissions (P <.001). The parental repeat size correlated with the size of intergenerational contraction (r2 = .50, P

Original languageEnglish
Pages (from-to)414-423
Number of pages10
JournalAmerican Journal of Human Genetics
Volume54
Issue number3
Publication statusPublished - 1994

ASJC Scopus subject areas

  • Genetics

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