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Postzygotic instability of the myotonic dystrophy p[AGC]n repeat supported by larger expansions in muscle and reduced amplifications in sperm |
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| Authors: | Antonella Massari Massimo Gennarelli Elisa Menegazzo Antonio Pizzuti Vincenzo Silani Ismaele Mastrogiacomo Enzo Pagani Corrado Angelini Guglielmo Scarlato Giuseppe Novelli Bruno Dallapiccola |
| Affiliation: | (1) Department of Public Health and Cell Biology, Tor Vergata University, Rome, Italy;(2) Neuroscience Department, University of Padua, Padua, Italy;(3) Neurological Institute, University of Milan, Milan, Italy;(4) Institute of Semeiotics, University of Padua, Padua, Italy;(5) Department of Human Genetics, Catholic University of Sacred Heart, Rome, Via F. Vito 1, 1-00168 Rome, Italy;(6) CSS Hospital IRCSS, San Giovanni Rotondo, Italy |
| Abstract: | We have analysed the AGC] expansion in leucocytes, muscle and sperm from 17 individuals affected by myotonic dystrophy (DM). Skeletal muscle showed a larger repeat number than leucocytes in the same patient. A similar degree of expansion was detected in differently affected muscles of a single patient. The germline mutation ( 350 repeats) was expanded in somatic cells of the progeny in all patients examined. Our results provide evidence of an early postzygotic instability of the AGC] repeat in DM. |
| Keywords: | Myotonic dystrophy p[AGC]n repeat Somatic mosaicism Germline mutation |
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