The genetic status of mothers of isolated cases of Duchenne muscular dystrophy.


Journal Article

Classical genetic theory, based on assumed equal mutation rates in males and females, predicts that one-third of all cases of Duchenne muscular dystrophy (DMD) in a generation are born as new mutants to non-carrier mothers. Furthermore, less than half the mothers of apparently isolated cases appear to be carriers on the basis of raised serum creatine kinase levels. We have analysed the pedigrees of 61 families of DMD boys seen in the Duke Neuromuscular Research Clinic and 45 DMD families followed at the University of Virginia. The frequency of affected boys among the next born male sibs of 37 initially isolated DMD cases in two clinic populations was significantly greater than predicted by Haldane's theory (p = 0.029) and the estimated proportion of new mutant cases in the combined clinic population of 106 families was 0.127 (SE 0.111). The absence of affected males in earlier generations in families of isolated cases may be explained in part by a high ratio of male to female stillbirths and infant deaths, which was more than three times that of the normal population in this study. These data suggest that new mutant cases are less common than expected and current predictions may underestimate genetic risks in mothers of isolated cases.

Full Text

Cited Authors

  • Lane, RJ; Robinow, M; Roses, AD

Published Date

  • February 1, 1983

Published In

Volume / Issue

  • 20 / 1

Start / End Page

  • 1 - 11

PubMed ID

  • 6842530

Pubmed Central ID

  • 6842530

Electronic International Standard Serial Number (EISSN)

  • 1468-6244

International Standard Serial Number (ISSN)

  • 0022-2593

Digital Object Identifier (DOI)

  • 10.1136/jmg.20.1.1


  • eng