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a Service
de Cardiologie, Hôpital Trousseau, 37044 Tours Cedex, France, b Service de Biochimie B, Hôpital de la
Salpêtrière, 47 Bld de l'Hôpital, 75651 Paris Cedex 13, France, c Service de Génétique, CHU Bretonneau, Tours,
France, d INSERM U
523, Hôpital de la Salpêtrière, Paris, France, e Service de
Cardiologie, Hôpital de la Salpêtrière, Paris, France, f Service de Cardiologie, Hôpital
Ambroise Paré, Boulogne, France
Correspondence to: Dr Hainque
Revised version received 28 July 1999;
Accepted for publication 23
September 1999
Familial hypertrophic cardiomyopathy is a genetically and
phenotypically heterogeneous disease caused by mutations in seven sarcomeric protein genes. It is known to be transmitted as an autosomal
dominant trait with rare de novo mutations.
A French family in which two members are affected by hypertrophic
cardiomyopathy was clinically screened with electrocardiography and
echocardiography. Genetic analyses were performed on leucocyte DNA by
haplotype analysis with microsatellite markers at the
MYH7 locus and mutation screening by single
strand conformation polymorphism analysis. Two subjects exhibited
severe hypertrophic cardiomyopathy. A mutation in the
MYH7 gene was found in exon 14 (Arg453Cys). The two affected patients were carriers of the mutation, which was not
found in the circulating lymphocytes of their parents. Haplotype
analysis at the MYH7 locus with two
intragenic microsatellite markers (MYOI and MYOII) and the absence of
the mutation in the father's sperm DNA suggested that the mutation had
been inherited from the mother. However, it was not found in either her
fibroblasts or hair.
This is the first description of germline mosaicism shown by molecular
genetic analysis in an autosomal dominant disorder and more especially
in hypertrophic cardiomyopathy. This mosaicism had been inherited from
the mother but did not affect her somatic cells. Such a phenomenon
might account for some de novo mutations in familial hypertrophic cardiomyopathy.
myosin heavy chain;
genetics
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