Correlation of clinical profile of myotonic dystrophy with CTG repeats in the myotonin protein kinase gene

M. Gourie-Devi, J. Ray Chaudhuri, Anisya Vasanth, Quasar Saleem, Mousumi Mutsuddi, Meera Gopinath, P. S. Sarkar, Samir K. Brahmachari

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Abstract

The molecular genetic analyses (PCR and Southern hybridization) of Indian patients with myotonic dystrophy (DM) were carried out to determine the degree of repeat expansion and an attempt was made to correlate the repeat number with disease severity. A scoring system based on the salient clinical features was devised to objectively assess the disease severity. The repeat expansion was seen in 11 of 12 patients examined and showed an inverse correlation with the age of onset confirming the phenomenon of anticipation. This was further established in the two pedigrees studied, clearly demonstrating both clinical and genetic anticipation. The clinical severity score, however, did not correlate well with the repeat number. Nonetheless, such molecular genetic analyses may have immense value as a screening procedure to identify premutations as well as in prenatal diagnoses.

Original languageEnglish (US)
Pages (from-to)187-196
Number of pages10
JournalIndian Journal of Medical Research
Volume107
Issue numberAPR.
StatePublished - May 26 1998
Externally publishedYes

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Keywords

  • CTG repeat expansion
  • Myotonia
  • Myotonic dystrophy
  • PCR
  • Southern hybridization

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

Gourie-Devi, M., Chaudhuri, J. R., Vasanth, A., Saleem, Q., Mutsuddi, M., Gopinath, M., Sarkar, P. S., & Brahmachari, S. K. (1998). Correlation of clinical profile of myotonic dystrophy with CTG repeats in the myotonin protein kinase gene. Indian Journal of Medical Research, 107(APR.), 187-196.