Duchenne/Becker muscular dystrophy in the family: have potential carriers been tested at a molecular level?

Apollonia T. J. M. Helderman-van den Enden*, J. C. van den Bergen, Martijn H. Breuning, Jan J. G. M. Verschuuren, A. Tibben, E. Bakker, Hendrika B. Ginjaar

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

15 Citations (Web of Science)

Abstract

Duchenne muscular dystrophy (DMD) is the most common inherited neuromuscular disease. After identification of the mutation in the index patient, family members can be reliably investigated. Carriers should be informed about their risk of having offspring with the disease and about their own risk for cardiomyopathy for which regular cardiac surveillance is recommended. In a small country like the Netherlands with well-organized genetic services, one would expect that most DMD families are adequately informed about the above mentioned risks for carriers. We have investigated whether women at risk had been tested at a molecular level. In the national Duchenne/Becker database 311 DMD and 99 Becker muscular dystrophy (BMD) patients had been registered up to 1 July 2009. These patients were asked to give information about the number of sisters and maternal aunts of the DMD/BMD patient and anything that was known about their genetic status and that of the mother. This information was compared with the information known at the genetic laboratory. Thirty-five of 104 adult sisters/maternal aunts of DMD patients with a 50% risk of being a carrier and 45 of 148 adult women with a 4.3% risk because of germ line mosaicism for DMD had not been tested by DNA analysis. Our study indicates that about one third of the potential carriers have not been tested. Given the possible far-reaching clinical consequences of being a carrier, further studies are needed to investigate the reasons why potential female carriers have not been tested.
Original languageEnglish
Pages (from-to)236-242
JournalClinical Genetics
Volume79
Issue number3
DOIs
Publication statusPublished - Mar 2011

Keywords

  • Becker muscular dystrophy
  • cardiomyopathy
  • carrier
  • Duchenne muscular dystrophy
  • risk

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