Genetic counseling of isolated carriers of Duchenne muscular dystrophy

Eric P. Hoffman, Elena Pegoraro, Peter Scacheri, Ronald G. Burns, Joseph W. Taber, Lester Weiss, Alfred Spiro, Peggy Blattner

Research output: Contribution to journalArticlepeer-review

26 Scopus citations


It has recently become possible to detect female carriers of Duchenne muscular dystrophy with no affected male relative in the family. These 'isolated carriers' represent about 10% of women with high serum creatine phosphokinase (CPK) levels and clinical evidence of a muscle disease. Most isolated carriers ascertained by clinical and/or CPK levels and diagnosed by dystrophin immunostaining of muscle biopsy show symptoms of a muscular dystrophy, and often carry the diagnosis of recessive 'limb-girdle muscular dystrophy' prior to dystrophin analysis. It has been difficult to offer genetic counseling and prenatal diagnosis for Duchenne muscular dystrophy in the families of these isolated carriers, largely due to the difficulty in determining which of the dystrophin alleles segregating in the family harbors the mutation in the heterozygote. Here we report genetic counseling of three isolated carriers and their families. In two cases, prenatal diagnosis of at- risk pregnancies was conducted. We determined X inactivation patterns and inheritance of X chromosomes in each family, and used this information to define the at-risk dystrophin gene. In all three families, the mutation was a de novo event, two in the paternal germline, and one in the maternal germ- line. In each case we show that sibs of the heterozygous woman are at population risk, while pregnancies of each propositus are at high risk. Our results show that accurate genetic counseling and prenatal diagnosis can be offered to these families.

Original languageEnglish (US)
Pages (from-to)573-580
Number of pages8
JournalAmerican journal of medical genetics
Issue number4
StatePublished - Jun 28 1996


  • CPK
  • dystrophin
  • isolated X-linked DMD carriers

ASJC Scopus subject areas

  • Genetics(clinical)


Dive into the research topics of 'Genetic counseling of isolated carriers of Duchenne muscular dystrophy'. Together they form a unique fingerprint.

Cite this