title: Mental retardation and early onset of weakness in a girl with a dystrophinopathy and a large Xp21-23 deletion.
abstract: A 2-year-old girl presented with severe global developmental delay weakness, and an elevated serum creatine kinase level. Her muscle biopsy was consistent with an active dystrophy with absence of dystrophin in about half of the muscle fibers. Fluorescent in situ hybridization analysis showed her karyotype to be 46, X, delX p23.1-p21.1. This large deletion includes the dystrophin gene as well as the region involved in X-linked mental retardation. The genetic mechanism for the manifestation of both diseases is likely non-random inactivation of the X chromosome. To our knowledge, the combination of this dystrophinopathy in association with severe mental retardation has not been described in a girl.
authors.affiliation: Department of Pediatrics and Pediatric Neurology, Azienda Policlinico, University of Catania, Italy.
authors.forename: Raffaele
authors.initials: R
authors.lastname: Falsaperla
authors.forename: Giusi
authors.initials: G
authors.lastname: Romeo
authors.forename: Anna
authors.initials: A
authors.lastname: Sorge
authors.forename: Rio
authors.initials: R
authors.lastname: Bianchini
authors.forename: Angelo
authors.initials: A
authors.lastname: DiGiorgio
authors.forename: Tatiana
authors.initials: T
authors.lastname: Trigilia
authors.forename: Teresa
authors.initials: T
authors.lastname: Mattina
authors.forename: Anne M
authors.initials: AM
authors.lastname: Connolly
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D041321:Chromosomes, Human, X; D003402:Creatine Kinase / Q000097:blood*; D004252:DNA Mutational Analysis; D016189:Dystrophin / Q000235:genetics; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics; D006801:Humans; D038901:X-Linked Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D009460:Neurologic Examination; D012729:Sex Chromosome Aberrations
chemical_list: D016189:Dystrophin; D003402:Creatine Kinase