title: Duchenne muscular dystrophy in a 4-year-old girl due to heterozygous frame shift deletion of the dystrophin gene and skewed X-inactivation.
abstract: X-linked recessive diseases affect males, whereas female carriers are generally asymptomatic.We report on a 4-year-old girl who presented with a classical phenotype of Duchenne Muscular Dystrophy (DMD), a severe X-linked recessive type of muscular dystrophy affecting boys in early childhood.A thorough diagnostic work-up revealed that this resulted from a heterozygous out-of frame deletion in the DMD-gene in combination with an X-inactivation ratio of <10:90 in blood leukocytes and muscle.The case exemplifies that a skewed X-inactivation pattern has to be taken into account as mechanism causing clinical symptoms in female carriers of X-linked recessive disorders.
authors.affiliation: Institut für Neuropathologie, Universitätsklinikum Giessen, Germany. anne.schaenzer@patho.med.uni-giessen.de
authors.forename: A
authors.initials: A
authors.lastname: Schänzer
authors.forename: I
authors.initials: I
authors.lastname: Rau
authors.forename: W
authors.initials: W
authors.lastname: Kress
authors.forename: A
authors.initials: A
authors.lastname: Köhler
authors.forename: B
authors.initials: B
authors.lastname: Neubauer
authors.forename: A
authors.initials: A
authors.lastname: Hahn
mesh_terms: D001706:Biopsy; D002675:Child, Preschool; D003402:Creatine Kinase / Q000097:blood; D016189:Dystrophin / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics; D006580:Genetic Carrier Screening; D006801:Humans; D007962:Leukocytes / Q000378:metabolism; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D016133:Polymerase Chain Reaction; D058088:Sarcoglycanopathies / Q000175:diagnosis / Q000235:genetics*; D049951:X Chromosome Inactivation / Q000235:genetics*
chemical_list: D016189:Dystrophin; D003402:Creatine Kinase