title: Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy.
abstract: In this report, we describe a kindred consisting of five affected males presenting with many of the well-recognized features of Aarskog-Scott syndrome. The diagnosis, which was confirmed by the identification of a novel nonsense mutation of FGD1, was associated with the presence of a symmetric distal arthropathy with electromyographic signs of myopathy. These features should be considered in the evaluation of future patients.
authors.affiliation: Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia. alsemari@kfshrc.edu.sa
authors.forename: Abdulaziz
authors.initials: A
authors.lastname: Al-Semari
authors.forename: Salma M
authors.initials: SM
authors.lastname: Wakil
authors.forename: Mohammad A
authors.initials: MA
authors.lastname: Al-Muhaizea
authors.forename: Mohammed
authors.initials: M
authors.lastname: Dababo
authors.forename: Rana
authors.initials: R
authors.lastname: Al-Amr
authors.forename: Fowzan
authors.initials: F
authors.lastname: Alkuraya
authors.forename: Brian F
authors.initials: BF
authors.lastname: Meyer
mesh_terms: D000293:Adolescent; D001763:Blepharoptosis / Q000235:genetics; D002675:Child, Preschool; D018389:Codon, Nonsense / Q000235:genetics*; D004252:DNA Mutational Analysis; D004392:Dwarfism / Q000175:diagnosis / Q000235:genetics*; D004576:Electromyography; D005145:Face / Q000002:abnormalities; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics*; D005837:Genitalia, Male / Q000002:abnormalities; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000175:diagnosis / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D007592:Joint Diseases / Q000235:genetics*; D008297:Male; D009135:Muscular Diseases / Q000235:genetics*; D055815:Young Adult
chemical_list: D018389:Codon, Nonsense; C490796:FGD1 protein, human; D020662:Guanine Nucleotide Exchange Factors