Occurrence of two different intragenic deletions in two male relatives affected with Duchenne muscular dystrophy

M. L. Mostacciuolo, M. Miorin, L. Vitiello, A. Rampazzo, M. Fanin, C. Angelini, G. A. Danieli

Research output: Contribution to journalArticle

Abstract

The occurrence of 2 different intragenic deletions (exons 10-44 and exon 45, respectively) is reported in 2 male relatives affected with Duchenne muscular dystrophy, both showing the same haplotype for DNA markers not included in the deleted segment. The 2 different deletions seem to have occurred independently in the same X chromosome. This finding, together with other reports, suggests possibly an increased predisposition to mutations within the DMD locus in some families. Therefore, when dealing with prenatal diagnosis, the investigation on fetal DNA cannot be restricted only to the region in which a mutation was previously identified in the family.

Original languageEnglish
Pages (from-to)84-86
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume50
Issue number1
Publication statusPublished - 1994

Keywords

  • DMD
  • dystrophin
  • mutation
  • prenatal diagnosis

ASJC Scopus subject areas

  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Occurrence of two different intragenic deletions in two male relatives affected with Duchenne muscular dystrophy'. Together they form a unique fingerprint.

  • Cite this

    Mostacciuolo, M. L., Miorin, M., Vitiello, L., Rampazzo, A., Fanin, M., Angelini, C., & Danieli, G. A. (1994). Occurrence of two different intragenic deletions in two male relatives affected with Duchenne muscular dystrophy. American Journal of Medical Genetics, 50(1), 84-86.